1079:, Type I (HPI) may not always be a benign condition, and that the severity of the clinical phenotype appears to correlate with the serum proline level. Still, in another case study, clinical features from 4 unrelated patients included early motor and cognitive developmental delay, speech delay, autistic features, hyperactivity, stereotypic behaviors, and seizures. All patients had increased plasma and urine proline levels. All patients had biallelic mutations in the PRODH gene, often with several variants on the same allele. Residual enzyme activity ranged from null in the most severely affected patient to 25 to 30% in those with a relatively milder phenotype.
255:
232:
154:
129:
506:
261:
160:
1075:
birth, often associated with hypotonia, severe language delay, autistic features, behavioral problems, and seizures. One patient who was heterozygous for a 22q11 microdeletion also had dysmorphic features. Four previously reported patients with HPI and neurologic involvement had a similar phenotype. This case study showed that
1062:), the cellular energy sensor, by 5-aminoimidazole-4-carboxamide ribonucleoside (AICAR), also markedly upregulated PRODH and increased PRODH-dependent ATP levels, further supporting its role during stress. Glucose deprivation increased intracellular proline levels, and expression of PRODH activated the
1074:
Mutations in the PRODH gene are associated with
Proline Dehydrogenase deficiency. Many case studies have reported on this genetic disorder. In one such case study, 4 unrelated patients with HPI and a severe neurologic phenotype were shown to have the following common features: psychomotor delay from
1811:
Jacquet H, Demily C, Houy E, Hecketsweiler B, Bou J, Raux G, Lerond J, Allio G, Haouzir S, Tillaux A, Bellegou C, Fouldrin G, Delamillieure P, Ménard JF, Dollfus S, D'Amato T, Petit M, Thibaut F, Frébourg T, Campion D (May 2005). "Hyperprolinemia is a risk factor for schizoaffective disorder".
1325:
Afenjar A, Moutard ML, Doummar D, Guët A, Rabier D, Vermersch AI, Mignot C, Burglen L, Heron D, Thioulouse E, de
Villemeur TB, Campion D, Rodriguez D (Oct 2007). "Early neurological phenotype in 4 children with biallelic PRODH mutations".
1033:
metabolism is especially important in nutrient stress because proline is readily available from the breakdown of extracellular matrix (ECM), and the degradation of proline through the proline cycle initiated by proline oxidase (PRODH), a
1730:
Li T, Ma X, Sham PC, Sun X, Hu X, Wang Q, Meng H, Deng W, Liu X, Murray RM, Collier DA (Aug 2004). "Evidence for association between novel polymorphisms in the PRODH gene and schizophrenia in a
Chinese population".
1058:, stimulated degradation of proline and increased PRODH catalytic activity. Under these conditions PRODH was responsible, at least in part, for maintenance of ATP levels. Activation of AMP-activated protein kinase (
268:
167:
1054:. The proline cycle is also in a metabolic interlock with the pentose phosphate pathway providing another bioenergetic mechanism. The induction of stress either by glucose withdrawal or by treatment with
1173:
Campbell HD, Webb GC, Young IG (Nov 1997). "A human homologue of the
Drosophila melanogaster sluggish-A (proline oxidase) gene maps to 22q11.2, and is a candidate gene for type-I hyperprolinaemia".
1506:
Donald SP, Sun XY, Hu CA, Yu J, Mei JM, Valle D, Phang JM (Mar 2001). "Proline oxidase, encoded by p53-induced gene-6, catalyzes the generation of proline-dependent reactive oxygen species".
1066:. Therefore, the induction of the proline cycle under conditions of nutrient stress may be a mechanism by which cells switch to a catabolic mode for maintaining cellular energy levels.
1693:
Williams HJ, Williams N, Spurlock G, Norton N, Zammit S, Kirov G, Owen MJ, O'Donovan MC (Jul 2003). "Detailed analysis of PRODH and PsPRODH reveals no association with schizophrenia".
1216:
Gogos JA, Santha M, Takacs Z, Beck KD, Luine V, Lucas LR, Nadler JV, Karayiorgou M (Apr 1999). "The gene encoding proline dehydrogenase modulates sensorimotor gating in mice".
1416:
Kempf L, Nicodemus KK, Kolachana B, Vakkalanka R, Verchinski BA, Egan MF, Straub RE, Mattay VA, Callicott JH, Weinberger DR, Meyer-Lindenberg A (Nov 2008). Katsanis N (ed.).
1929:"Proline oxidase, a proapoptotic gene, is induced by troglitazone: evidence for both peroxisome proliferator-activated receptor gamma-dependent and -independent mechanisms"
2230:
1580:
Jacquet H, Raux G, Thibaut F, Hecketsweiler B, Houy E, Demilly C, Haouzir S, Allio G, Fouldrin G, Drouin V, Bou J, Petit M, Campion D, Frébourg T (Sep 2002).
2832:
2163:
2856:
2812:
2327:
709:
90:
1018:
690:
2176:
2417:
2071:
1527:
Liu H, Heath SC, Sobin C, Roos JL, Galke BL, Blundell ML, Lenane M, Robertson B, Wijsman EM, Rapoport JL, Gogos JA, Karayiorgou M (Mar 2002).
1155:
1137:
2093:
1369:
Perry TL, Hardwick DF, Lowry RB, Hansen S (May 1968). "Hyperprolinaemia in two successive generations of a North
American Indian family".
2861:
2223:
2101:
1964:"Proline oxidase activates both intrinsic and extrinsic pathways for apoptosis: the role of ROS/superoxides, NFAT and MEK/ERK signaling"
1418:"Functional polymorphisms in PRODH are associated with risk and protection for schizophrenia and fronto-striatal structure and function"
2851:
2807:
2657:
2322:
2130:
917:
924:
2913:
2422:
1999:"Association study of the G-protein signaling 4 (RGS4) and proline dehydrogenase (PRODH) genes with schizophrenia: a meta-analysis"
2653:
1262:
2216:
3127:
2374:
1529:"Genetic variation at the 22q11 PRODH2/DGCR6 locus presents an unusual pattern and increases susceptibility to schizophrenia"
1120:
2514:
2337:
1617:"Proline oxidase induces apoptosis in tumor cells, and its expression is frequently absent or reduced in renal carcinomas"
3027:
2624:
2347:
2120:
2064:
1099:
2827:
2317:
2143:
1650:
Jacquet H, Berthelot J, Bonnemains C, Simard G, Saugier-Veber P, Raux G, Campion D, Bonneau D, Frebourg T (Jan 2003).
254:
2822:
2739:
2648:
2097:
2208:
231:
2352:
2494:
1124:
1103:
2886:
2367:
2362:
2057:
754:
3037:
3032:
2749:
2412:
1770:"Structures of the Escherichia coli PutA proline dehydrogenase domain in complex with competitive inhibitors"
153:
128:
735:
1035:
70:
2975:
2926:
2393:
267:
166:
2681:
2397:
2298:
2293:
2115:
1461:
Polyak K, Xia Y, Zweier JL, Kinzler KW, Vogelstein B (Sep 1997). "A model for p53-induced apoptosis".
260:
159:
3022:
3017:
2970:
2931:
2576:
1894:"The p53-induced gene-6 (proline oxidase) mediates apoptosis through a calcineurin-dependent pathway"
1063:
57:
2980:
2557:
2084:
2043:
1652:"The severe form of type I hyperprolinaemia results from homozygous inactivation of the PRODH gene"
875:
824:
78:
2899:
2881:
2711:
2686:
2614:
2596:
2377:– this diagram does not include the pathway for β-leucine synthesis via leucine 2,3-aminomutase)
2357:
2197:
2192:
2110:
900:
879:
849:
828:
3098:
2891:
2744:
1039:
2921:
3093:
2457:
142:
17:
1029:
Proline oxidase, or proline dehydrogenase, functions as the initiator of the proline cycle.
1013:
11.21, a region which has also been associated with the contiguous gene deletion syndromes:
2764:
2538:
2271:
2261:
2247:
2039:
1540:
1470:
98:
8:
2908:
2904:
2817:
2702:
2332:
1047:
1849:
Bender HU, Almashanu S, Steel G, Hu CA, Lin WW, Willis A, Pulver A, Valle D (Mar 2005).
1544:
1474:
2950:
2499:
2243:
1875:
1850:
1837:
1794:
1769:
1756:
1718:
1676:
1651:
1494:
1444:
1417:
1394:
1382:
1351:
1302:
1277:
1241:
1198:
102:
1563:
1528:
624:
619:
614:
609:
604:
599:
583:
578:
573:
557:
552:
547:
2342:
2148:
2020:
1985:
1950:
1915:
1880:
1829:
1799:
1748:
1710:
1681:
1638:
1603:
1568:
1515:
1486:
1449:
1386:
1343:
1307:
1233:
1190:
1014:
61:, HSPOX2, PIG6, POX, PRODH1, PRODH2, TP53I6, Proline oxidase, proline dehydrogenase 1
50:
2238:
1841:
1760:
1722:
1398:
1355:
1245:
1202:
3067:
2010:
1975:
1940:
1905:
1870:
1862:
1821:
1789:
1781:
1740:
1702:
1671:
1663:
1628:
1593:
1558:
1548:
1498:
1478:
1439:
1429:
1378:
1339:
1335:
1297:
1289:
1225:
1182:
347:
278:
222:
177:
2049:
82:
2519:
2402:
1434:
1076:
1006:
322:
106:
1160:
National Center for
Biotechnology Information, U.S. National Library of Medicine
1142:
National Center for
Biotechnology Information, U.S. National Library of Medicine
2080:
1533:
Proceedings of the
National Academy of Sciences of the United States of America
423:
505:
3121:
3004:
2784:
2432:
1768:
Zhang M, White TA, Schuermann JP, Baban BA, Becker DF, Tanner JJ (Oct 2004).
1598:
1581:
1010:
998:
534:
2015:
1998:
483:
361:
3089:
2961:
2789:
2407:
2024:
1989:
1980:
1963:
1954:
1945:
1928:
1919:
1910:
1893:
1884:
1833:
1803:
1752:
1714:
1685:
1642:
1633:
1616:
1607:
1582:"PRODH mutations and hyperprolinemia in a subset of schizophrenic patients"
1572:
1553:
1519:
1453:
1347:
1311:
1237:
994:
340:
119:
1825:
1490:
1390:
1194:
1186:
964:
959:
2769:
2735:
1744:
1706:
799:
780:
1667:
3076:
3052:
2871:
2842:
2691:
2384:
2275:
2239:
239:
136:
86:
1785:
1293:
3080:
2941:
2760:
2756:
2731:
2619:
2605:
2591:
2567:
1055:
1051:
1043:
654:
600:
intrinsic apoptotic signaling pathway in response to oxidative stress
306:
293:
205:
192:
94:
3044:
3008:
2995:
2727:
2672:
2548:
2510:
2467:
2436:
1866:
948:
1482:
1278:"Regulation and function of proline oxidase under nutrient stress"
1005:
catabolism. Deletion of this gene has been associated with type I
3048:
2634:
2529:
2506:
2481:
2472:
2308:
2167:
1415:
1229:
1030:
1002:
766:
721:
639:
635:
1649:
74:
2798:
2485:
2284:
2251:
2134:
1579:
980:
932:
676:
514:
1962:
Liu Y, Borchert GL, Surazynski A, Hu CA, Phang JM (Sep 2006).
1810:
1692:
2662:
1059:
987:
1767:
1324:
1275:
1368:
330:
1961:
1276:
Pandhare J, Donald SP, Cooper SK, Phang JM (Jul 2009).
1848:
1460:
1263:"Entrez Gene: PRODH proline dehydrogenase (oxidase) 1"
1851:"Functional consequences of PRODH missense mutations"
1215:
1050:, products that can play an anaplerotic role for the
495:
2857:
Branched-chain alpha-keto acid dehydrogenase complex
2813:
Branched-chain alpha-keto acid dehydrogenase complex
2328:
Branched-chain alpha-keto acid dehydrogenase complex
2079:
1926:
1116:
1114:
1112:
1095:
1093:
1091:
2465:
1526:
1172:
277:
176:
3119:
2177:Electron-transferring-flavoprotein dehydrogenase
2418:Aminocarboxymuconate-semialdehyde decarboxylase
1109:
1088:
29:Protein-coding gene in the species Homo sapiens
1121:GRCm38: Ensembl release 89: ENSMUSG00000003526
2224:
2065:
1891:
1614:
1505:
1927:Pandhare J, Cooper SK, Phang JM (Jan 2006).
2862:3-hydroxy-2-methylbutyryl-CoA dehydrogenase
1733:American Journal of Medical Genetics Part B
1729:
1695:American Journal of Medical Genetics Part B
1209:
1100:GRCh38: Ensembl release 89: ENSG00000100033
2852:Branched-chain amino acid aminotransferase
2808:Branched-chain amino acid aminotransferase
2323:Branched-chain amino acid aminotransferase
2231:
2217:
2072:
2058:
1166:
2833:Methylmalonate semialdehyde dehydrogenase
2042:at the U.S. National Library of Medicine
2014:
1979:
1944:
1909:
1874:
1793:
1675:
1632:
1597:
1562:
1552:
1443:
1433:
1301:
2423:Aminomuconate-semialdehyde dehydrogenase
1257:
1255:
1069:
2654:1-Pyrroline-5-carboxylate dehydrogenase
14:
3120:
2914:Betaine-homocysteine methyltransferase
993:The protein encoded by this gene is a
625:proline catabolic process to glutamate
2375:Template:Leucine metabolism in humans
2212:
2053:
1252:
1042:. This degradative pathway generates
282:
243:
238:
181:
140:
135:
2515:Guanidinoacetate N-methyltransferase
1996:
977:Proline dehydrogenase, mitochondrial
3028:4-Hydroxyphenylpyruvate dioxygenase
2625:Formiminotransferase cyclodeaminase
2348:Isovaleryl coenzyme A dehydrogenase
2121:Methylenetetrahydrofolate reductase
1933:The Journal of Biological Chemistry
1898:The Journal of Biological Chemistry
1621:The Journal of Biological Chemistry
24:
2828:3-hydroxyisobutyrate dehydrogenase
2318:3-Hydroxybutyryl-CoA dehydrogenase
2144:Dihydrobenzophenanthridine oxidase
2003:European Journal of Human Genetics
1855:American Journal of Human Genetics
1408:
1383:10.1111/j.1469-1809.1968.tb00573.x
1001:which catalyzes the first step in
610:4-hydroxyproline catabolic process
25:
3139:
2823:3-hydroxyisobutyryl-CoA hydrolase
2740:Gamma-glutamylcysteine synthetase
2649:Pyrroline-5-carboxylate reductase
2033:
1892:Rivera A, Maxwell SA (Aug 2005).
1615:Maxwell SA, Rivera A (Mar 2003).
983:that in humans is encoded by the
605:positive regulation of cell death
1282:Journal of Cellular Biochemistry
504:
266:
259:
253:
230:
165:
158:
152:
127:
2495:Serine hydroxymethyltransferase
1362:
2909:Homocysteine methyltransferase
2887:Methionine adenosyltransferase
2368:Methylglutaconyl-CoA hydratase
2363:Methylcrotonyl-CoA carboxylase
1340:10.1016/j.braindev.2007.01.008
1318:
1269:
1148:
1130:
558:proline dehydrogenase activity
515:More reference expression data
484:More reference expression data
13:
1:
3038:Fumarylacetoacetate hydrolase
3033:Homogentisate 1,2-dioxygenase
2750:Gamma-glutamyl transpeptidase
2413:3-hydroxyanthranilate oxidase
2353:α-Ketoisocaproate dioxygenase
1082:
251:
150:
3128:Genes on human chromosome 22
1435:10.1371/journal.pgen.1000252
1036:mitochondrial inner membrane
574:mitochondrial inner membrane
7:
2976:Methylmalonyl CoA epimerase
2927:Cystathionine beta synthase
2394:Indoleamine 2,3-dioxygenase
1656:Journal of Medical Genetics
1024:
10:
3144:
2900:regeneration of methionine
2882:generation of homocysteine
2682:Ornithine aminotransferase
2398:Tryptophan 2,3-dioxygenase
2299:Glutaryl-CoA dehydrogenase
2294:Saccharopine dehydrogenase
2116:Saccharopine dehydrogenase
3075:
3065:
3023:Tyrosine aminotransferase
3018:Phenylalanine hydroxylase
3003:
2993:
2971:Propionyl-CoA carboxylase
2959:
2940:
2932:Cystathionine gamma-lyase
2870:
2841:
2797:
2782:
2720:
2700:
2671:
2633:
2604:
2589:
2577:L-threonine dehydrogenase
2566:
2547:
2528:
2480:
2456:
2431:
2383:
2307:
2283:
2270:
2258:
2185:
2162:
2129:
2092:
1156:"Mouse PubMed Reference:"
1138:"Human PubMed Reference:"
1064:pentose phosphate pathway
1009:. The gene is located on
963:
958:
954:
947:
931:
912:
897:
893:
872:
868:
861:
846:
842:
821:
817:
810:
797:
793:
778:
774:
765:
752:
748:
733:
729:
720:
707:
703:
688:
684:
675:
660:
653:
649:
633:
620:proline metabolic process
615:proline catabolic process
533:
529:
512:
503:
494:
481:
430:
421:
368:
359:
329:
321:
317:
300:
287:
250:
229:
220:
216:
199:
186:
149:
126:
117:
113:
68:
65:
55:
48:
43:
39:
34:
2981:Methylmalonyl-CoA mutase
2558:D-cysteine desulfhydrase
2044:Medical Subject Headings
1586:Human Molecular Genetics
1371:Annals of Human Genetics
925:Chr 16: 17.88 – 17.91 Mb
918:Chr 22: 18.91 – 18.94 Mb
2712:Glutamate dehydrogenase
2687:Ornithine decarboxylase
2615:Histidine ammonia-lyase
2358:Leucine 2,3-aminomutase
2198:Cytokinin dehydrogenase
2193:Sarcosine dehydrogenase
2111:Dihydrofolate reductase
2016:10.1038/sj.ejhg.5201680
1997:Li D, He L (Oct 2006).
1328:Brain & Development
548:oxidoreductase activity
3099:Aspartate transaminase
2922:conversion to cysteine
2892:Adenosylhomocysteinase
2745:Glutathione synthetase
1981:10.1038/sj.onc.1209564
1946:10.1074/jbc.M507867200
1911:10.1074/jbc.M504852200
1634:10.1074/jbc.M210012200
1599:10.1093/hmg/11.19.2243
1554:10.1073/pnas.042700699
470:superior frontal gyrus
284:16 A3|16 11.19 cM
3094:Asparagine synthetase
2262:Essential amino acids
1826:10.1038/sj.mp.4001597
1187:10.1007/s004390050589
1070:Clinical significance
1038:enzyme, can generate
462:primary visual cortex
245:Chromosome 16 (mouse)
143:Chromosome 22 (human)
2765:Glutamine synthetase
2539:Alanine transaminase
1814:Molecular Psychiatry
1745:10.1002/ajmg.b.30049
1707:10.1002/ajmg.b.20049
579:mitochondrial matrix
450:hepatobiliary system
2905:Methionine synthase
2818:Enoyl-CoA hydratase
2703:alpha-ketoglutarate
2620:Urocanate hydratase
2333:Enoyl-CoA hydratase
1668:10.1136/jmg.40.1.e7
1545:2002PNAS...99.3717L
1475:1997Natur.389..300P
1048:alpha-ketoglutarate
2951:Threonine aldolase
2500:Serine dehydratase
2244:Protein metabolism
755:ENSMUSG00000003526
593:Biological process
567:Cellular component
541:Molecular function
3115:
3114:
3111:
3110:
3107:
3106:
3061:
3060:
2989:
2988:
2778:
2777:
2585:
2584:
2452:
2451:
2343:HMG-CoA reductase
2206:
2205:
2149:Sarcosine oxidase
1786:10.1021/bi048737e
1294:10.1002/jcb.22174
1015:DiGeorge syndrome
974:
973:
970:
969:
943:
942:
908:
907:
887:
886:
857:
856:
836:
835:
806:
805:
787:
786:
761:
760:
742:
741:
716:
715:
697:
696:
645:
644:
525:
524:
521:
520:
490:
489:
477:
476:
466:cerebellar cortex
415:
414:
396:nucleus accumbens
313:
312:
212:
211:
107:PRODH - orthologs
16:(Redirected from
3135:
3073:
3072:
3001:
3000:
2795:
2794:
2602:
2601:
2478:
2477:
2463:
2462:
2281:
2280:
2233:
2226:
2219:
2210:
2209:
2074:
2067:
2060:
2051:
2050:
2028:
2018:
1993:
1983:
1958:
1948:
1923:
1913:
1904:(32): 29346–54.
1888:
1878:
1845:
1807:
1797:
1780:(39): 12539–48.
1764:
1726:
1689:
1679:
1646:
1636:
1611:
1601:
1576:
1566:
1556:
1523:
1502:
1457:
1447:
1437:
1428:(11): e1000252.
1403:
1402:
1366:
1360:
1359:
1322:
1316:
1315:
1305:
1273:
1267:
1266:
1259:
1250:
1249:
1213:
1207:
1206:
1170:
1164:
1163:
1152:
1146:
1145:
1134:
1128:
1118:
1107:
1097:
1019:CATCH22 syndrome
956:
955:
927:
920:
903:
891:
890:
882:
866:
865:
862:RefSeq (protein)
852:
840:
839:
831:
815:
814:
791:
790:
772:
771:
746:
745:
727:
726:
701:
700:
682:
681:
651:
650:
531:
530:
517:
508:
501:
500:
486:
426:
424:Top expressed in
419:
418:
364:
362:Top expressed in
357:
356:
336:
335:
319:
318:
309:
296:
285:
270:
263:
257:
246:
234:
218:
217:
208:
195:
184:
169:
162:
156:
145:
131:
115:
114:
109:
60:
53:
32:
31:
21:
3143:
3142:
3138:
3137:
3136:
3134:
3133:
3132:
3118:
3117:
3116:
3103:
3057:
2985:
2955:
2936:
2866:
2837:
2788:
2774:
2716:
2696:
2667:
2644:Proline oxidase
2629:
2597:α-ketoglutarate
2595:
2581:
2562:
2543:
2524:
2520:Creatine kinase
2470:
2448:
2427:
2403:Arylformamidase
2379:
2303:
2266:
2264:are in Capitals
2254:
2250:and catabolism
2237:
2207:
2202:
2181:
2158:
2154:Proline oxidase
2125:
2088:
2081:Oxidoreductases
2078:
2040:Proline+oxidase
2036:
2031:
1508:Cancer Research
1469:(6648): 300–5.
1411:
1409:Further reading
1406:
1367:
1363:
1323:
1319:
1274:
1270:
1261:
1260:
1253:
1218:Nature Genetics
1214:
1210:
1171:
1167:
1154:
1153:
1149:
1136:
1135:
1131:
1119:
1110:
1098:
1089:
1085:
1077:Hyperprolinemia
1072:
1027:
1007:hyperprolinemia
965:View/Edit Mouse
960:View/Edit Human
923:
916:
913:Location (UCSC)
899:
878:
874:
848:
827:
823:
736:ENSG00000100033
629:
588:
562:
513:
482:
473:
468:
464:
460:
458:muscle of thigh
456:
452:
448:
446:proximal tubule
444:
440:
436:
422:
411:
406:
402:
398:
394:
390:
388:caudate nucleus
386:
382:
378:
376:skin of abdomen
374:
360:
304:
291:
283:
273:
272:
271:
264:
244:
221:Gene location (
203:
190:
182:
172:
171:
170:
163:
141:
118:Gene location (
69:
56:
49:
30:
23:
22:
15:
12:
11:
5:
3141:
3131:
3130:
3113:
3112:
3109:
3108:
3105:
3104:
3102:
3101:
3096:
3086:
3084:
3070:
3063:
3062:
3059:
3058:
3056:
3055:
3041:
3040:
3035:
3030:
3025:
3020:
3014:
3012:
2998:
2991:
2990:
2987:
2986:
2984:
2983:
2978:
2973:
2967:
2965:
2957:
2956:
2954:
2953:
2947:
2945:
2938:
2937:
2935:
2934:
2929:
2917:
2916:
2911:
2895:
2894:
2889:
2877:
2875:
2868:
2867:
2865:
2864:
2859:
2854:
2848:
2846:
2839:
2838:
2836:
2835:
2830:
2825:
2820:
2815:
2810:
2804:
2802:
2792:
2780:
2779:
2776:
2775:
2773:
2772:
2767:
2753:
2752:
2747:
2742:
2724:
2722:
2718:
2717:
2715:
2714:
2708:
2706:
2698:
2697:
2695:
2694:
2689:
2684:
2678:
2676:
2669:
2668:
2666:
2665:
2660:
2651:
2646:
2640:
2638:
2631:
2630:
2628:
2627:
2622:
2617:
2611:
2609:
2599:
2587:
2586:
2583:
2582:
2580:
2579:
2573:
2571:
2564:
2563:
2561:
2560:
2554:
2552:
2545:
2544:
2542:
2541:
2535:
2533:
2526:
2525:
2523:
2522:
2517:
2503:
2502:
2497:
2491:
2489:
2475:
2460:
2454:
2453:
2450:
2449:
2447:
2446:
2442:
2440:
2429:
2428:
2426:
2425:
2420:
2415:
2410:
2405:
2400:
2390:
2388:
2381:
2380:
2371:
2370:
2365:
2360:
2355:
2350:
2345:
2340:
2335:
2330:
2325:
2320:
2314:
2312:
2305:
2304:
2302:
2301:
2296:
2290:
2288:
2278:
2268:
2267:
2259:
2256:
2255:
2236:
2235:
2228:
2221:
2213:
2204:
2203:
2201:
2200:
2195:
2189:
2187:
2183:
2182:
2180:
2179:
2173:
2171:
2160:
2159:
2157:
2156:
2151:
2146:
2140:
2138:
2127:
2126:
2124:
2123:
2118:
2113:
2107:
2105:
2090:
2089:
2077:
2076:
2069:
2062:
2054:
2048:
2047:
2035:
2034:External links
2032:
2030:
2029:
2009:(10): 1130–5.
1994:
1974:(41): 5640–7.
1959:
1939:(4): 2044–52.
1924:
1889:
1867:10.1086/428142
1846:
1808:
1765:
1727:
1690:
1647:
1627:(11): 9784–9.
1612:
1592:(19): 2243–9.
1577:
1539:(6): 3717–22.
1524:
1503:
1458:
1412:
1410:
1407:
1405:
1404:
1361:
1317:
1268:
1251:
1208:
1175:Human Genetics
1165:
1147:
1129:
1108:
1086:
1084:
1081:
1071:
1068:
1026:
1023:
1011:chromosome 22q
972:
971:
968:
967:
962:
952:
951:
945:
944:
941:
940:
938:
936:
929:
928:
921:
914:
910:
909:
906:
905:
895:
894:
888:
885:
884:
870:
869:
863:
859:
858:
855:
854:
844:
843:
837:
834:
833:
819:
818:
812:
808:
807:
804:
803:
795:
794:
788:
785:
784:
776:
775:
769:
763:
762:
759:
758:
750:
749:
743:
740:
739:
731:
730:
724:
718:
717:
714:
713:
705:
704:
698:
695:
694:
686:
685:
679:
673:
672:
667:
662:
658:
657:
647:
646:
643:
642:
631:
630:
628:
627:
622:
617:
612:
607:
602:
596:
594:
590:
589:
587:
586:
581:
576:
570:
568:
564:
563:
561:
560:
555:
550:
544:
542:
538:
537:
527:
526:
523:
522:
519:
518:
510:
509:
498:
492:
491:
488:
487:
479:
478:
475:
474:
472:
471:
467:
463:
459:
455:
451:
447:
443:
439:
435:
431:
428:
427:
416:
413:
412:
410:
409:
405:
401:
397:
393:
389:
385:
381:
377:
373:
369:
366:
365:
353:
352:
344:
333:
327:
326:
323:RNA expression
315:
314:
311:
310:
302:
298:
297:
289:
286:
281:
275:
274:
265:
258:
252:
248:
247:
242:
236:
235:
227:
226:
214:
213:
210:
209:
201:
197:
196:
188:
185:
180:
174:
173:
164:
157:
151:
147:
146:
139:
133:
132:
124:
123:
111:
110:
67:
63:
62:
54:
46:
45:
41:
40:
37:
36:
28:
9:
6:
4:
3:
2:
3140:
3129:
3126:
3125:
3123:
3100:
3097:
3095:
3091:
3088:
3087:
3085:
3082:
3078:
3074:
3071:
3069:
3064:
3054:
3050:
3046:
3043:
3042:
3039:
3036:
3034:
3031:
3029:
3026:
3024:
3021:
3019:
3016:
3015:
3013:
3010:
3006:
3005:PHENYLALANINE
3002:
2999:
2997:
2992:
2982:
2979:
2977:
2974:
2972:
2969:
2968:
2966:
2963:
2958:
2952:
2949:
2948:
2946:
2943:
2939:
2933:
2930:
2928:
2925:
2923:
2919:
2918:
2915:
2912:
2910:
2906:
2903:
2901:
2897:
2896:
2893:
2890:
2888:
2885:
2883:
2879:
2878:
2876:
2873:
2869:
2863:
2860:
2858:
2855:
2853:
2850:
2849:
2847:
2844:
2840:
2834:
2831:
2829:
2826:
2824:
2821:
2819:
2816:
2814:
2811:
2809:
2806:
2805:
2803:
2800:
2796:
2793:
2791:
2786:
2785:propionyl-CoA
2781:
2771:
2768:
2766:
2762:
2758:
2755:
2754:
2751:
2748:
2746:
2743:
2741:
2737:
2733:
2729:
2726:
2725:
2723:
2719:
2713:
2710:
2709:
2707:
2704:
2699:
2693:
2690:
2688:
2685:
2683:
2680:
2679:
2677:
2674:
2670:
2664:
2661:
2659:
2655:
2652:
2650:
2647:
2645:
2642:
2641:
2639:
2636:
2632:
2626:
2623:
2621:
2618:
2616:
2613:
2612:
2610:
2607:
2603:
2600:
2598:
2593:
2588:
2578:
2575:
2574:
2572:
2569:
2565:
2559:
2556:
2555:
2553:
2550:
2546:
2540:
2537:
2536:
2534:
2531:
2527:
2521:
2518:
2516:
2512:
2508:
2505:
2504:
2501:
2498:
2496:
2493:
2492:
2490:
2487:
2483:
2479:
2476:
2474:
2469:
2464:
2461:
2459:
2455:
2444:
2443:
2441:
2438:
2434:
2433:PHENYLALANINE
2430:
2424:
2421:
2419:
2416:
2414:
2411:
2409:
2406:
2404:
2401:
2399:
2395:
2392:
2391:
2389:
2386:
2382:
2378:
2376:
2369:
2366:
2364:
2361:
2359:
2356:
2354:
2351:
2349:
2346:
2344:
2341:
2339:
2338:HMG-CoA lyase
2336:
2334:
2331:
2329:
2326:
2324:
2321:
2319:
2316:
2315:
2313:
2310:
2306:
2300:
2297:
2295:
2292:
2291:
2289:
2286:
2282:
2279:
2277:
2273:
2269:
2265:
2263:
2257:
2253:
2249:
2245:
2241:
2234:
2229:
2227:
2222:
2220:
2215:
2214:
2211:
2199:
2196:
2194:
2191:
2190:
2188:
2184:
2178:
2175:
2174:
2172:
2169:
2165:
2161:
2155:
2152:
2150:
2147:
2145:
2142:
2141:
2139:
2136:
2132:
2128:
2122:
2119:
2117:
2114:
2112:
2109:
2108:
2106:
2103:
2099:
2095:
2091:
2086:
2082:
2075:
2070:
2068:
2063:
2061:
2056:
2055:
2052:
2045:
2041:
2038:
2037:
2026:
2022:
2017:
2012:
2008:
2004:
2000:
1995:
1991:
1987:
1982:
1977:
1973:
1969:
1965:
1960:
1956:
1952:
1947:
1942:
1938:
1934:
1930:
1925:
1921:
1917:
1912:
1907:
1903:
1899:
1895:
1890:
1886:
1882:
1877:
1872:
1868:
1864:
1861:(3): 409–20.
1860:
1856:
1852:
1847:
1843:
1839:
1835:
1831:
1827:
1823:
1820:(5): 479–85.
1819:
1815:
1809:
1805:
1801:
1796:
1791:
1787:
1783:
1779:
1775:
1771:
1766:
1762:
1758:
1754:
1750:
1746:
1742:
1738:
1734:
1728:
1724:
1720:
1716:
1712:
1708:
1704:
1700:
1696:
1691:
1687:
1683:
1678:
1673:
1669:
1665:
1661:
1657:
1653:
1648:
1644:
1640:
1635:
1630:
1626:
1622:
1618:
1613:
1609:
1605:
1600:
1595:
1591:
1587:
1583:
1578:
1574:
1570:
1565:
1560:
1555:
1550:
1546:
1542:
1538:
1534:
1530:
1525:
1521:
1517:
1514:(5): 1810–5.
1513:
1509:
1504:
1500:
1496:
1492:
1488:
1484:
1483:10.1038/38525
1480:
1476:
1472:
1468:
1464:
1459:
1455:
1451:
1446:
1441:
1436:
1431:
1427:
1423:
1422:PLOS Genetics
1419:
1414:
1413:
1400:
1396:
1392:
1388:
1384:
1380:
1376:
1372:
1365:
1357:
1353:
1349:
1345:
1341:
1337:
1334:(9): 547–52.
1333:
1329:
1321:
1313:
1309:
1304:
1299:
1295:
1291:
1288:(4): 759–68.
1287:
1283:
1279:
1272:
1264:
1258:
1256:
1247:
1243:
1239:
1235:
1231:
1227:
1223:
1219:
1212:
1204:
1200:
1196:
1192:
1188:
1184:
1180:
1176:
1169:
1161:
1157:
1151:
1143:
1139:
1133:
1126:
1122:
1117:
1115:
1113:
1105:
1101:
1096:
1094:
1092:
1087:
1080:
1078:
1067:
1065:
1061:
1057:
1053:
1049:
1045:
1041:
1037:
1032:
1022:
1020:
1016:
1012:
1008:
1004:
1000:
999:dehydrogenase
996:
995:mitochondrial
991:
989:
986:
982:
978:
966:
961:
957:
953:
950:
946:
939:
937:
934:
930:
926:
922:
919:
915:
911:
904:
902:
896:
892:
889:
883:
881:
877:
871:
867:
864:
860:
853:
851:
845:
841:
838:
832:
830:
826:
820:
816:
813:
811:RefSeq (mRNA)
809:
802:
801:
796:
792:
789:
783:
782:
777:
773:
770:
768:
764:
757:
756:
751:
747:
744:
738:
737:
732:
728:
725:
723:
719:
712:
711:
706:
702:
699:
693:
692:
687:
683:
680:
678:
674:
671:
668:
666:
663:
659:
656:
652:
648:
641:
637:
632:
626:
623:
621:
618:
616:
613:
611:
608:
606:
603:
601:
598:
597:
595:
592:
591:
585:
584:mitochondrion
582:
580:
577:
575:
572:
571:
569:
566:
565:
559:
556:
554:
551:
549:
546:
545:
543:
540:
539:
536:
535:Gene ontology
532:
528:
516:
511:
507:
502:
499:
497:
493:
485:
480:
469:
465:
461:
457:
453:
449:
445:
441:
437:
433:
432:
429:
425:
420:
417:
407:
404:apex of heart
403:
399:
395:
391:
387:
383:
379:
375:
371:
370:
367:
363:
358:
355:
354:
351:
349:
345:
343:
342:
338:
337:
334:
332:
328:
324:
320:
316:
308:
303:
299:
295:
290:
280:
276:
269:
262:
256:
249:
241:
237:
233:
228:
224:
219:
215:
207:
202:
198:
194:
189:
179:
175:
168:
161:
155:
148:
144:
138:
134:
130:
125:
121:
116:
112:
108:
104:
100:
96:
92:
88:
84:
80:
76:
72:
64:
59:
52:
47:
42:
38:
33:
27:
19:
3090:Asparaginase
3068:oxaloacetate
2962:succinyl-CoA
2920:
2898:
2880:
2790:succinyl-CoA
2643:
2408:Kynureninase
2372:
2260:
2153:
2006:
2002:
1971:
1967:
1936:
1932:
1901:
1897:
1858:
1854:
1817:
1813:
1777:
1774:Biochemistry
1773:
1736:
1732:
1698:
1694:
1659:
1655:
1624:
1620:
1589:
1585:
1536:
1532:
1511:
1507:
1466:
1462:
1425:
1421:
1377:(4): 401–7.
1374:
1370:
1364:
1331:
1327:
1320:
1285:
1281:
1271:
1230:10.1038/7777
1224:(4): 434–9.
1221:
1217:
1211:
1181:(1): 69–74.
1178:
1174:
1168:
1159:
1150:
1141:
1132:
1073:
1028:
992:
984:
976:
975:
898:
876:NP_001182155
873:
847:
825:NM_001195226
822:
798:
779:
753:
734:
708:
689:
669:
664:
442:renal cortex
438:right kidney
434:human kidney
380:tibial nerve
346:
339:
66:External IDs
26:
2770:Glutaminase
2736:glutathione
2445:(see below)
1739:(1): 13–5.
1701:(1): 42–6.
1662:(1): 7e–7.
553:FAD binding
408:sural nerve
372:skin of leg
305:17,908,067
292:17,878,221
204:18,936,553
191:18,912,777
44:Identifiers
3077:asparagine
3053:Tyrosinase
2872:METHIONINE
2843:ISOLEUCINE
2692:Agmatinase
2385:TRYPTOPHAN
2276:acetyl-CoA
2240:Metabolism
1127:, May 2017
1106:, May 2017
1083:References
392:right lung
350:(ortholog)
87:HomoloGene
3081:aspartate
2942:THREONINE
2761:glutamine
2757:glutamate
2732:glutamate
2606:HISTIDINE
2592:glutamate
2568:threonine
2248:synthesis
2083:: CH-NH (
1056:rapamycin
1052:TCA cycle
1044:glutamate
901:NP_035302
880:NP_057419
850:NM_011172
829:NM_016335
655:Orthologs
95:GeneCards
3122:Category
3045:tyrosine
3009:tyrosine
2996:fumarate
2728:cysteine
2673:arginine
2549:cysteine
2511:creatine
2468:pyruvate
2437:tyrosine
2170:acceptor
2137:acceptor
2104:acceptor
2025:16791139
1990:16619034
1968:Oncogene
1955:16303758
1920:15914462
1885:15662599
1842:21756122
1834:15494707
1804:15449943
1761:43876243
1753:15274030
1723:22741500
1715:12815738
1686:12525555
1643:12514185
1608:12217952
1573:11891283
1520:11280728
1454:18989458
1399:29894262
1356:43512139
1348:17412540
1312:19415679
1246:10813774
1238:10192398
1203:13473036
1123:–
1102:–
1025:Function
997:proline
949:Wikidata
634:Sources:
384:amygdala
183:22q11.21
3049:melanin
2658:ALDH4A1
2635:proline
2530:alanine
2507:glycine
2482:glycine
2473:citrate
2309:LEUCINE
2252:enzymes
2168:quinone
1876:1196393
1795:3727243
1677:1735267
1541:Bibcode
1499:4429638
1491:9305847
1471:Bibcode
1445:2573019
1391:4299764
1303:2801574
1195:9385373
1125:Ensembl
1104:Ensembl
1031:Proline
1003:proline
767:UniProt
722:Ensembl
661:Species
640:QuickGO
400:putamen
325:pattern
51:Aliases
2799:VALINE
2486:serine
2285:LYSINE
2186:1.5.99
2135:oxygen
2046:(MeSH)
2023:
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979:is an
935:search
933:PubMed
800:Q9WU79
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677:Entrez
496:BioGPS
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2721:Other
2663:PYCR1
2373:(See
2164:1.5.5
2131:1.5.3
2094:1.5.1
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1757:S2CID
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1495:S2CID
1395:S2CID
1352:S2CID
1242:S2CID
1199:S2CID
985:PRODH
710:19125
670:Mouse
665:Human
636:Amigo
454:liver
348:Mouse
341:Human
288:Start
223:Mouse
187:Start
120:Human
99:PRODH
91:40764
83:97770
58:PRODH
35:PRODH
18:PRODH
2964:→TCA
2705:→TCA
2102:NADP
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2021:PMID
1986:PMID
1951:PMID
1916:PMID
1881:PMID
1830:PMID
1800:PMID
1749:PMID
1737:129B
1711:PMID
1699:120B
1682:PMID
1639:PMID
1604:PMID
1569:PMID
1516:PMID
1487:PMID
1450:PMID
1387:PMID
1344:PMID
1308:PMID
1234:PMID
1191:PMID
1060:AMPK
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988:gene
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137:Chr.
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2100:or
2098:NAD
2011:doi
1976:doi
1941:doi
1937:281
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1902:280
1871:PMC
1863:doi
1822:doi
1790:PMC
1782:doi
1741:doi
1703:doi
1672:PMC
1664:doi
1629:doi
1625:278
1594:doi
1559:PMC
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1479:doi
1467:389
1440:PMC
1430:doi
1379:doi
1336:doi
1298:PMC
1290:doi
1286:107
1226:doi
1183:doi
1179:101
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200:End
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