1068:, 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.
244:
221:
143:
118:
495:
250:
149:
1064:
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
1051:), 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
1063:
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
1800:
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".
1314:
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".
1022:
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
1719:
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".
1047:, 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 (
257:
156:
1043:. 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
1162:
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".
1495:
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".
1055:. 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.
1682:
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".
1205:
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".
1405:
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.).
1918:"Proline oxidase, a proapoptotic gene, is induced by troglitazone: evidence for both peroxisome proliferator-activated receptor gamma-dependent and -independent mechanisms"
2219:
1569:
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).
2821:
2152:
2845:
2801:
2316:
698:
79:
1007:
679:
2165:
2406:
2060:
1516:
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).
1144:
1126:
2082:
1358:
Perry TL, Hardwick DF, Lowry RB, Hansen S (May 1968). "Hyperprolinaemia in two successive generations of a North
American Indian family".
2850:
2212:
2090:
1953:"Proline oxidase activates both intrinsic and extrinsic pathways for apoptosis: the role of ROS/superoxides, NFAT and MEK/ERK signaling"
1407:"Functional polymorphisms in PRODH are associated with risk and protection for schizophrenia and fronto-striatal structure and function"
2840:
2796:
2646:
2311:
2119:
906:
913:
2902:
2411:
1988:"Association study of the G-protein signaling 4 (RGS4) and proline dehydrogenase (PRODH) genes with schizophrenia: a meta-analysis"
2642:
1251:
2205:
3116:
2363:
1518:"Genetic variation at the 22q11 PRODH2/DGCR6 locus presents an unusual pattern and increases susceptibility to schizophrenia"
1109:
2503:
2326:
1606:"Proline oxidase induces apoptosis in tumor cells, and its expression is frequently absent or reduced in renal carcinomas"
3016:
2613:
2336:
2109:
2053:
1088:
2816:
2306:
2132:
1639:
Jacquet H, Berthelot J, Bonnemains C, Simard G, Saugier-Veber P, Raux G, Campion D, Bonneau D, Frebourg T (Jan 2003).
243:
2811:
2728:
2637:
2086:
2197:
220:
2341:
2483:
1113:
1092:
2875:
2356:
2351:
2046:
743:
3026:
3021:
2738:
2401:
1759:"Structures of the Escherichia coli PutA proline dehydrogenase domain in complex with competitive inhibitors"
142:
117:
724:
1024:
59:
2964:
2915:
2382:
256:
155:
2670:
2386:
2287:
2282:
2104:
1450:
Polyak K, Xia Y, Zweier JL, Kinzler KW, Vogelstein B (Sep 1997). "A model for p53-induced apoptosis".
249:
148:
3011:
3006:
2959:
2920:
2565:
1883:"The p53-induced gene-6 (proline oxidase) mediates apoptosis through a calcineurin-dependent pathway"
1052:
46:
2969:
2546:
2073:
2032:
1641:"The severe form of type I hyperprolinaemia results from homozygous inactivation of the PRODH gene"
864:
813:
67:
2888:
2870:
2700:
2675:
2603:
2585:
2366:– this diagram does not include the pathway for β-leucine synthesis via leucine 2,3-aminomutase)
2346:
2186:
2181:
2099:
889:
868:
838:
817:
3087:
2880:
2733:
1028:
2910:
3082:
2446:
131:
1018:
Proline oxidase, or proline dehydrogenase, functions as the initiator of the proline cycle.
1002:
11.21, a region which has also been associated with the contiguous gene deletion syndromes:
2753:
2527:
2260:
2250:
2236:
2028:
1529:
1459:
87:
8:
2897:
2893:
2806:
2691:
2321:
1036:
1838:
Bender HU, Almashanu S, Steel G, Hu CA, Lin WW, Willis A, Pulver A, Valle D (Mar 2005).
1533:
1463:
2939:
2488:
2232:
1864:
1839:
1826:
1783:
1758:
1745:
1707:
1665:
1640:
1483:
1433:
1406:
1383:
1371:
1340:
1291:
1266:
1230:
1187:
91:
1552:
1517:
613:
608:
603:
598:
593:
588:
572:
567:
562:
546:
541:
536:
2331:
2137:
2009:
1974:
1939:
1904:
1869:
1818:
1788:
1737:
1699:
1670:
1627:
1592:
1557:
1504:
1475:
1438:
1375:
1332:
1296:
1222:
1179:
1003:
50:, HSPOX2, PIG6, POX, PRODH1, PRODH2, TP53I6, Proline oxidase, proline dehydrogenase 1
39:
2227:
1830:
1749:
1711:
1387:
1344:
1234:
1191:
3056:
1999:
1964:
1929:
1894:
1859:
1851:
1810:
1778:
1770:
1729:
1691:
1660:
1652:
1617:
1582:
1547:
1537:
1487:
1467:
1428:
1418:
1367:
1328:
1324:
1286:
1278:
1214:
1171:
336:
267:
211:
166:
2038:
71:
2508:
2391:
1423:
1065:
995:
311:
95:
1149:
National Center for
Biotechnology Information, U.S. National Library of Medicine
1131:
National Center for
Biotechnology Information, U.S. National Library of Medicine
2069:
1522:
Proceedings of the
National Academy of Sciences of the United States of America
412:
494:
3110:
2993:
2773:
2421:
1757:
Zhang M, White TA, Schuermann JP, Baban BA, Becker DF, Tanner JJ (Oct 2004).
1587:
1570:
999:
987:
523:
2004:
1987:
472:
350:
3078:
2950:
2778:
2396:
2013:
1978:
1969:
1952:
1943:
1934:
1917:
1908:
1899:
1882:
1873:
1822:
1792:
1741:
1703:
1674:
1631:
1622:
1605:
1596:
1571:"PRODH mutations and hyperprolinemia in a subset of schizophrenic patients"
1561:
1542:
1508:
1442:
1336:
1300:
1226:
983:
329:
108:
1814:
1479:
1379:
1183:
1175:
953:
948:
2758:
2724:
1733:
1695:
788:
769:
1656:
3065:
3041:
2860:
2831:
2680:
2373:
2264:
2228:
228:
125:
75:
1774:
1282:
3069:
2930:
2749:
2745:
2720:
2608:
2594:
2580:
2556:
1044:
1040:
1032:
643:
589:
intrinsic apoptotic signaling pathway in response to oxidative stress
295:
282:
194:
181:
83:
3033:
2997:
2984:
2716:
2661:
2537:
2499:
2456:
2425:
1855:
937:
1471:
1267:"Regulation and function of proline oxidase under nutrient stress"
994:
catabolism. Deletion of this gene has been associated with type I
3037:
2623:
2518:
2495:
2470:
2461:
2297:
2156:
1404:
1218:
1019:
991:
755:
710:
628:
624:
1638:
63:
2787:
2474:
2273:
2240:
2123:
1568:
969:
921:
665:
503:
1951:
Liu Y, Borchert GL, Surazynski A, Hu CA, Phang JM (Sep 2006).
1799:
1681:
2651:
1048:
976:
1756:
1313:
1264:
1357:
319:
1950:
1265:
Pandhare J, Donald SP, Cooper SK, Phang JM (Jul 2009).
1837:
1449:
1252:"Entrez Gene: PRODH proline dehydrogenase (oxidase) 1"
1840:"Functional consequences of PRODH missense mutations"
1204:
1039:, products that can play an anaplerotic role for the
484:
2846:
Branched-chain alpha-keto acid dehydrogenase complex
2802:
Branched-chain alpha-keto acid dehydrogenase complex
2317:
Branched-chain alpha-keto acid dehydrogenase complex
2068:
1915:
1105:
1103:
1101:
1084:
1082:
1080:
2454:
1515:
1161:
266:
165:
3108:
2166:Electron-transferring-flavoprotein dehydrogenase
2407:Aminocarboxymuconate-semialdehyde decarboxylase
1098:
1077:
18:Protein-coding gene in the species Homo sapiens
1110:GRCm38: Ensembl release 89: ENSMUSG00000003526
2213:
2054:
1880:
1603:
1494:
1916:Pandhare J, Cooper SK, Phang JM (Jan 2006).
2851:3-hydroxy-2-methylbutyryl-CoA dehydrogenase
1722:American Journal of Medical Genetics Part B
1718:
1684:American Journal of Medical Genetics Part B
1198:
1089:GRCh38: Ensembl release 89: ENSG00000100033
2841:Branched-chain amino acid aminotransferase
2797:Branched-chain amino acid aminotransferase
2312:Branched-chain amino acid aminotransferase
2220:
2206:
2061:
2047:
1155:
2822:Methylmalonate semialdehyde dehydrogenase
2031:at the U.S. National Library of Medicine
2003:
1968:
1933:
1898:
1863:
1782:
1664:
1621:
1586:
1551:
1541:
1432:
1422:
1290:
2412:Aminomuconate-semialdehyde dehydrogenase
1246:
1244:
1058:
2643:1-Pyrroline-5-carboxylate dehydrogenase
3109:
2903:Betaine-homocysteine methyltransferase
982:The protein encoded by this gene is a
614:proline catabolic process to glutamate
2364:Template:Leucine metabolism in humans
2201:
2042:
1241:
1031:. This degradative pathway generates
271:
232:
227:
170:
129:
124:
2504:Guanidinoacetate N-methyltransferase
1985:
966:Proline dehydrogenase, mitochondrial
3017:4-Hydroxyphenylpyruvate dioxygenase
2614:Formiminotransferase cyclodeaminase
2337:Isovaleryl coenzyme A dehydrogenase
2110:Methylenetetrahydrofolate reductase
1922:The Journal of Biological Chemistry
1887:The Journal of Biological Chemistry
1610:The Journal of Biological Chemistry
13:
2817:3-hydroxyisobutyrate dehydrogenase
2307:3-Hydroxybutyryl-CoA dehydrogenase
2133:Dihydrobenzophenanthridine oxidase
1992:European Journal of Human Genetics
1844:American Journal of Human Genetics
1397:
1372:10.1111/j.1469-1809.1968.tb00573.x
990:which catalyzes the first step in
599:4-hydroxyproline catabolic process
14:
3128:
2812:3-hydroxyisobutyryl-CoA hydrolase
2729:Gamma-glutamylcysteine synthetase
2638:Pyrroline-5-carboxylate reductase
2022:
1881:Rivera A, Maxwell SA (Aug 2005).
1604:Maxwell SA, Rivera A (Mar 2003).
972:that in humans is encoded by the
594:positive regulation of cell death
1271:Journal of Cellular Biochemistry
493:
255:
248:
242:
219:
154:
147:
141:
116:
2484:Serine hydroxymethyltransferase
1351:
2898:Homocysteine methyltransferase
2876:Methionine adenosyltransferase
2357:Methylglutaconyl-CoA hydratase
2352:Methylcrotonyl-CoA carboxylase
1329:10.1016/j.braindev.2007.01.008
1307:
1258:
1137:
1119:
547:proline dehydrogenase activity
504:More reference expression data
473:More reference expression data
1:
3027:Fumarylacetoacetate hydrolase
3022:Homogentisate 1,2-dioxygenase
2739:Gamma-glutamyl transpeptidase
2402:3-hydroxyanthranilate oxidase
2342:α-Ketoisocaproate dioxygenase
1071:
240:
139:
3117:Genes on human chromosome 22
1424:10.1371/journal.pgen.1000252
1025:mitochondrial inner membrane
563:mitochondrial inner membrane
7:
2965:Methylmalonyl CoA epimerase
2916:Cystathionine beta synthase
2383:Indoleamine 2,3-dioxygenase
1645:Journal of Medical Genetics
1013:
10:
3133:
2889:regeneration of methionine
2871:generation of homocysteine
2671:Ornithine aminotransferase
2387:Tryptophan 2,3-dioxygenase
2288:Glutaryl-CoA dehydrogenase
2283:Saccharopine dehydrogenase
2105:Saccharopine dehydrogenase
3064:
3054:
3012:Tyrosine aminotransferase
3007:Phenylalanine hydroxylase
2992:
2982:
2960:Propionyl-CoA carboxylase
2948:
2929:
2921:Cystathionine gamma-lyase
2859:
2830:
2786:
2771:
2709:
2689:
2660:
2622:
2593:
2578:
2566:L-threonine dehydrogenase
2555:
2536:
2517:
2469:
2445:
2420:
2372:
2296:
2272:
2259:
2247:
2174:
2151:
2118:
2081:
1145:"Mouse PubMed Reference:"
1127:"Human PubMed Reference:"
1053:pentose phosphate pathway
998:. The gene is located on
952:
947:
943:
936:
920:
901:
886:
882:
861:
857:
850:
835:
831:
810:
806:
799:
786:
782:
767:
763:
754:
741:
737:
722:
718:
709:
696:
692:
677:
673:
664:
649:
642:
638:
622:
609:proline metabolic process
604:proline catabolic process
522:
518:
501:
492:
483:
470:
419:
410:
357:
348:
318:
310:
306:
289:
276:
239:
218:
209:
205:
188:
175:
138:
115:
106:
102:
57:
54:
44:
37:
32:
28:
23:
2970:Methylmalonyl-CoA mutase
2547:D-cysteine desulfhydrase
2033:Medical Subject Headings
1575:Human Molecular Genetics
1360:Annals of Human Genetics
914:Chr 16: 17.88 – 17.91 Mb
907:Chr 22: 18.91 – 18.94 Mb
2701:Glutamate dehydrogenase
2676:Ornithine decarboxylase
2604:Histidine ammonia-lyase
2347:Leucine 2,3-aminomutase
2187:Cytokinin dehydrogenase
2182:Sarcosine dehydrogenase
2100:Dihydrofolate reductase
2005:10.1038/sj.ejhg.5201680
1986:Li D, He L (Oct 2006).
1317:Brain & Development
537:oxidoreductase activity
3088:Aspartate transaminase
2911:conversion to cysteine
2881:Adenosylhomocysteinase
2734:Glutathione synthetase
1970:10.1038/sj.onc.1209564
1935:10.1074/jbc.M507867200
1900:10.1074/jbc.M504852200
1623:10.1074/jbc.M210012200
1588:10.1093/hmg/11.19.2243
1543:10.1073/pnas.042700699
459:superior frontal gyrus
273:16 A3|16 11.19 cM
3083:Asparagine synthetase
2251:Essential amino acids
1815:10.1038/sj.mp.4001597
1176:10.1007/s004390050589
1059:Clinical significance
1027:enzyme, can generate
451:primary visual cortex
234:Chromosome 16 (mouse)
132:Chromosome 22 (human)
2754:Glutamine synthetase
2528:Alanine transaminase
1803:Molecular Psychiatry
1734:10.1002/ajmg.b.30049
1696:10.1002/ajmg.b.20049
568:mitochondrial matrix
439:hepatobiliary system
2894:Methionine synthase
2807:Enoyl-CoA hydratase
2692:alpha-ketoglutarate
2609:Urocanate hydratase
2322:Enoyl-CoA hydratase
1657:10.1136/jmg.40.1.e7
1534:2002PNAS...99.3717L
1464:1997Natur.389..300P
1037:alpha-ketoglutarate
2940:Threonine aldolase
2489:Serine dehydratase
2233:Protein metabolism
744:ENSMUSG00000003526
582:Biological process
556:Cellular component
530:Molecular function
3104:
3103:
3100:
3099:
3096:
3095:
3050:
3049:
2978:
2977:
2767:
2766:
2574:
2573:
2441:
2440:
2332:HMG-CoA reductase
2195:
2194:
2138:Sarcosine oxidase
1775:10.1021/bi048737e
1283:10.1002/jcb.22174
1004:DiGeorge syndrome
963:
962:
959:
958:
932:
931:
897:
896:
876:
875:
846:
845:
825:
824:
795:
794:
776:
775:
750:
749:
731:
730:
705:
704:
686:
685:
634:
633:
514:
513:
510:
509:
479:
478:
466:
465:
455:cerebellar cortex
404:
403:
385:nucleus accumbens
302:
301:
201:
200:
96:PRODH - orthologs
3124:
3062:
3061:
2990:
2989:
2784:
2783:
2591:
2590:
2467:
2466:
2452:
2451:
2270:
2269:
2222:
2215:
2208:
2199:
2198:
2063:
2056:
2049:
2040:
2039:
2017:
2007:
1982:
1972:
1947:
1937:
1912:
1902:
1893:(32): 29346–54.
1877:
1867:
1834:
1796:
1786:
1769:(39): 12539–48.
1753:
1715:
1678:
1668:
1635:
1625:
1600:
1590:
1565:
1555:
1545:
1512:
1491:
1446:
1436:
1426:
1417:(11): e1000252.
1392:
1391:
1355:
1349:
1348:
1311:
1305:
1304:
1294:
1262:
1256:
1255:
1248:
1239:
1238:
1202:
1196:
1195:
1159:
1153:
1152:
1141:
1135:
1134:
1123:
1117:
1107:
1096:
1086:
1008:CATCH22 syndrome
945:
944:
916:
909:
892:
880:
879:
871:
855:
854:
851:RefSeq (protein)
841:
829:
828:
820:
804:
803:
780:
779:
761:
760:
735:
734:
716:
715:
690:
689:
671:
670:
640:
639:
520:
519:
506:
497:
490:
489:
475:
415:
413:Top expressed in
408:
407:
353:
351:Top expressed in
346:
345:
325:
324:
308:
307:
298:
285:
274:
259:
252:
246:
235:
223:
207:
206:
197:
184:
173:
158:
151:
145:
134:
120:
104:
103:
98:
49:
42:
21:
20:
3132:
3131:
3127:
3126:
3125:
3123:
3122:
3121:
3107:
3106:
3105:
3092:
3046:
2974:
2944:
2925:
2855:
2826:
2777:
2763:
2705:
2685:
2656:
2633:Proline oxidase
2618:
2586:α-ketoglutarate
2584:
2570:
2551:
2532:
2513:
2509:Creatine kinase
2459:
2437:
2416:
2392:Arylformamidase
2368:
2292:
2255:
2253:are in Capitals
2243:
2239:and catabolism
2226:
2196:
2191:
2170:
2147:
2143:Proline oxidase
2114:
2077:
2070:Oxidoreductases
2067:
2029:Proline+oxidase
2025:
2020:
1497:Cancer Research
1458:(6648): 300–5.
1400:
1398:Further reading
1395:
1356:
1352:
1312:
1308:
1263:
1259:
1250:
1249:
1242:
1207:Nature Genetics
1203:
1199:
1160:
1156:
1143:
1142:
1138:
1125:
1124:
1120:
1108:
1099:
1087:
1078:
1074:
1066:Hyperprolinemia
1061:
1016:
996:hyperprolinemia
954:View/Edit Mouse
949:View/Edit Human
912:
905:
902:Location (UCSC)
888:
867:
863:
837:
816:
812:
725:ENSG00000100033
618:
577:
551:
502:
471:
462:
457:
453:
449:
447:muscle of thigh
445:
441:
437:
435:proximal tubule
433:
429:
425:
411:
400:
395:
391:
387:
383:
379:
377:caudate nucleus
375:
371:
367:
365:skin of abdomen
363:
349:
293:
280:
272:
262:
261:
260:
253:
233:
210:Gene location (
192:
179:
171:
161:
160:
159:
152:
130:
107:Gene location (
58:
45:
38:
19:
12:
11:
5:
3130:
3120:
3119:
3102:
3101:
3098:
3097:
3094:
3093:
3091:
3090:
3085:
3075:
3073:
3059:
3052:
3051:
3048:
3047:
3045:
3044:
3030:
3029:
3024:
3019:
3014:
3009:
3003:
3001:
2987:
2980:
2979:
2976:
2975:
2973:
2972:
2967:
2962:
2956:
2954:
2946:
2945:
2943:
2942:
2936:
2934:
2927:
2926:
2924:
2923:
2918:
2906:
2905:
2900:
2884:
2883:
2878:
2866:
2864:
2857:
2856:
2854:
2853:
2848:
2843:
2837:
2835:
2828:
2827:
2825:
2824:
2819:
2814:
2809:
2804:
2799:
2793:
2791:
2781:
2769:
2768:
2765:
2764:
2762:
2761:
2756:
2742:
2741:
2736:
2731:
2713:
2711:
2707:
2706:
2704:
2703:
2697:
2695:
2687:
2686:
2684:
2683:
2678:
2673:
2667:
2665:
2658:
2657:
2655:
2654:
2649:
2640:
2635:
2629:
2627:
2620:
2619:
2617:
2616:
2611:
2606:
2600:
2598:
2588:
2576:
2575:
2572:
2571:
2569:
2568:
2562:
2560:
2553:
2552:
2550:
2549:
2543:
2541:
2534:
2533:
2531:
2530:
2524:
2522:
2515:
2514:
2512:
2511:
2506:
2492:
2491:
2486:
2480:
2478:
2464:
2449:
2443:
2442:
2439:
2438:
2436:
2435:
2431:
2429:
2418:
2417:
2415:
2414:
2409:
2404:
2399:
2394:
2389:
2379:
2377:
2370:
2369:
2360:
2359:
2354:
2349:
2344:
2339:
2334:
2329:
2324:
2319:
2314:
2309:
2303:
2301:
2294:
2293:
2291:
2290:
2285:
2279:
2277:
2267:
2257:
2256:
2248:
2245:
2244:
2225:
2224:
2217:
2210:
2202:
2193:
2192:
2190:
2189:
2184:
2178:
2176:
2172:
2171:
2169:
2168:
2162:
2160:
2149:
2148:
2146:
2145:
2140:
2135:
2129:
2127:
2116:
2115:
2113:
2112:
2107:
2102:
2096:
2094:
2079:
2078:
2066:
2065:
2058:
2051:
2043:
2037:
2036:
2024:
2023:External links
2021:
2019:
2018:
1998:(10): 1130–5.
1983:
1963:(41): 5640–7.
1948:
1928:(4): 2044–52.
1913:
1878:
1856:10.1086/428142
1835:
1797:
1754:
1716:
1679:
1636:
1616:(11): 9784–9.
1601:
1581:(19): 2243–9.
1566:
1528:(6): 3717–22.
1513:
1492:
1447:
1401:
1399:
1396:
1394:
1393:
1350:
1306:
1257:
1240:
1197:
1164:Human Genetics
1154:
1136:
1118:
1097:
1075:
1073:
1070:
1060:
1057:
1015:
1012:
1000:chromosome 22q
961:
960:
957:
956:
951:
941:
940:
934:
933:
930:
929:
927:
925:
918:
917:
910:
903:
899:
898:
895:
894:
884:
883:
877:
874:
873:
859:
858:
852:
848:
847:
844:
843:
833:
832:
826:
823:
822:
808:
807:
801:
797:
796:
793:
792:
784:
783:
777:
774:
773:
765:
764:
758:
752:
751:
748:
747:
739:
738:
732:
729:
728:
720:
719:
713:
707:
706:
703:
702:
694:
693:
687:
684:
683:
675:
674:
668:
662:
661:
656:
651:
647:
646:
636:
635:
632:
631:
620:
619:
617:
616:
611:
606:
601:
596:
591:
585:
583:
579:
578:
576:
575:
570:
565:
559:
557:
553:
552:
550:
549:
544:
539:
533:
531:
527:
526:
516:
515:
512:
511:
508:
507:
499:
498:
487:
481:
480:
477:
476:
468:
467:
464:
463:
461:
460:
456:
452:
448:
444:
440:
436:
432:
428:
424:
420:
417:
416:
405:
402:
401:
399:
398:
394:
390:
386:
382:
378:
374:
370:
366:
362:
358:
355:
354:
342:
341:
333:
322:
316:
315:
312:RNA expression
304:
303:
300:
299:
291:
287:
286:
278:
275:
270:
264:
263:
254:
247:
241:
237:
236:
231:
225:
224:
216:
215:
203:
202:
199:
198:
190:
186:
185:
177:
174:
169:
163:
162:
153:
146:
140:
136:
135:
128:
122:
121:
113:
112:
100:
99:
56:
52:
51:
43:
35:
34:
30:
29:
26:
25:
17:
9:
6:
4:
3:
2:
3129:
3118:
3115:
3114:
3112:
3089:
3086:
3084:
3080:
3077:
3076:
3074:
3071:
3067:
3063:
3060:
3058:
3053:
3043:
3039:
3035:
3032:
3031:
3028:
3025:
3023:
3020:
3018:
3015:
3013:
3010:
3008:
3005:
3004:
3002:
2999:
2995:
2994:PHENYLALANINE
2991:
2988:
2986:
2981:
2971:
2968:
2966:
2963:
2961:
2958:
2957:
2955:
2952:
2947:
2941:
2938:
2937:
2935:
2932:
2928:
2922:
2919:
2917:
2914:
2912:
2908:
2907:
2904:
2901:
2899:
2895:
2892:
2890:
2886:
2885:
2882:
2879:
2877:
2874:
2872:
2868:
2867:
2865:
2862:
2858:
2852:
2849:
2847:
2844:
2842:
2839:
2838:
2836:
2833:
2829:
2823:
2820:
2818:
2815:
2813:
2810:
2808:
2805:
2803:
2800:
2798:
2795:
2794:
2792:
2789:
2785:
2782:
2780:
2775:
2774:propionyl-CoA
2770:
2760:
2757:
2755:
2751:
2747:
2744:
2743:
2740:
2737:
2735:
2732:
2730:
2726:
2722:
2718:
2715:
2714:
2712:
2708:
2702:
2699:
2698:
2696:
2693:
2688:
2682:
2679:
2677:
2674:
2672:
2669:
2668:
2666:
2663:
2659:
2653:
2650:
2648:
2644:
2641:
2639:
2636:
2634:
2631:
2630:
2628:
2625:
2621:
2615:
2612:
2610:
2607:
2605:
2602:
2601:
2599:
2596:
2592:
2589:
2587:
2582:
2577:
2567:
2564:
2563:
2561:
2558:
2554:
2548:
2545:
2544:
2542:
2539:
2535:
2529:
2526:
2525:
2523:
2520:
2516:
2510:
2507:
2505:
2501:
2497:
2494:
2493:
2490:
2487:
2485:
2482:
2481:
2479:
2476:
2472:
2468:
2465:
2463:
2458:
2453:
2450:
2448:
2444:
2433:
2432:
2430:
2427:
2423:
2422:PHENYLALANINE
2419:
2413:
2410:
2408:
2405:
2403:
2400:
2398:
2395:
2393:
2390:
2388:
2384:
2381:
2380:
2378:
2375:
2371:
2367:
2365:
2358:
2355:
2353:
2350:
2348:
2345:
2343:
2340:
2338:
2335:
2333:
2330:
2328:
2327:HMG-CoA lyase
2325:
2323:
2320:
2318:
2315:
2313:
2310:
2308:
2305:
2304:
2302:
2299:
2295:
2289:
2286:
2284:
2281:
2280:
2278:
2275:
2271:
2268:
2266:
2262:
2258:
2254:
2252:
2246:
2242:
2238:
2234:
2230:
2223:
2218:
2216:
2211:
2209:
2204:
2203:
2200:
2188:
2185:
2183:
2180:
2179:
2177:
2173:
2167:
2164:
2163:
2161:
2158:
2154:
2150:
2144:
2141:
2139:
2136:
2134:
2131:
2130:
2128:
2125:
2121:
2117:
2111:
2108:
2106:
2103:
2101:
2098:
2097:
2095:
2092:
2088:
2084:
2080:
2075:
2071:
2064:
2059:
2057:
2052:
2050:
2045:
2044:
2041:
2034:
2030:
2027:
2026:
2015:
2011:
2006:
2001:
1997:
1993:
1989:
1984:
1980:
1976:
1971:
1966:
1962:
1958:
1954:
1949:
1945:
1941:
1936:
1931:
1927:
1923:
1919:
1914:
1910:
1906:
1901:
1896:
1892:
1888:
1884:
1879:
1875:
1871:
1866:
1861:
1857:
1853:
1850:(3): 409–20.
1849:
1845:
1841:
1836:
1832:
1828:
1824:
1820:
1816:
1812:
1809:(5): 479–85.
1808:
1804:
1798:
1794:
1790:
1785:
1780:
1776:
1772:
1768:
1764:
1760:
1755:
1751:
1747:
1743:
1739:
1735:
1731:
1727:
1723:
1717:
1713:
1709:
1705:
1701:
1697:
1693:
1689:
1685:
1680:
1676:
1672:
1667:
1662:
1658:
1654:
1650:
1646:
1642:
1637:
1633:
1629:
1624:
1619:
1615:
1611:
1607:
1602:
1598:
1594:
1589:
1584:
1580:
1576:
1572:
1567:
1563:
1559:
1554:
1549:
1544:
1539:
1535:
1531:
1527:
1523:
1519:
1514:
1510:
1506:
1503:(5): 1810–5.
1502:
1498:
1493:
1489:
1485:
1481:
1477:
1473:
1472:10.1038/38525
1469:
1465:
1461:
1457:
1453:
1448:
1444:
1440:
1435:
1430:
1425:
1420:
1416:
1412:
1411:PLOS Genetics
1408:
1403:
1402:
1389:
1385:
1381:
1377:
1373:
1369:
1365:
1361:
1354:
1346:
1342:
1338:
1334:
1330:
1326:
1323:(9): 547–52.
1322:
1318:
1310:
1302:
1298:
1293:
1288:
1284:
1280:
1277:(4): 759–68.
1276:
1272:
1268:
1261:
1253:
1247:
1245:
1236:
1232:
1228:
1224:
1220:
1216:
1212:
1208:
1201:
1193:
1189:
1185:
1181:
1177:
1173:
1169:
1165:
1158:
1150:
1146:
1140:
1132:
1128:
1122:
1115:
1111:
1106:
1104:
1102:
1094:
1090:
1085:
1083:
1081:
1076:
1069:
1067:
1056:
1054:
1050:
1046:
1042:
1038:
1034:
1030:
1026:
1021:
1011:
1009:
1005:
1001:
997:
993:
989:
988:dehydrogenase
985:
984:mitochondrial
980:
978:
975:
971:
967:
955:
950:
946:
942:
939:
935:
928:
926:
923:
919:
915:
911:
908:
904:
900:
893:
891:
885:
881:
878:
872:
870:
866:
860:
856:
853:
849:
842:
840:
834:
830:
827:
821:
819:
815:
809:
805:
802:
800:RefSeq (mRNA)
798:
791:
790:
785:
781:
778:
772:
771:
766:
762:
759:
757:
753:
746:
745:
740:
736:
733:
727:
726:
721:
717:
714:
712:
708:
701:
700:
695:
691:
688:
682:
681:
676:
672:
669:
667:
663:
660:
657:
655:
652:
648:
645:
641:
637:
630:
626:
621:
615:
612:
610:
607:
605:
602:
600:
597:
595:
592:
590:
587:
586:
584:
581:
580:
574:
573:mitochondrion
571:
569:
566:
564:
561:
560:
558:
555:
554:
548:
545:
543:
540:
538:
535:
534:
532:
529:
528:
525:
524:Gene ontology
521:
517:
505:
500:
496:
491:
488:
486:
482:
474:
469:
458:
454:
450:
446:
442:
438:
434:
430:
426:
422:
421:
418:
414:
409:
406:
396:
393:apex of heart
392:
388:
384:
380:
376:
372:
368:
364:
360:
359:
356:
352:
347:
344:
343:
340:
338:
334:
332:
331:
327:
326:
323:
321:
317:
313:
309:
305:
297:
292:
288:
284:
279:
269:
265:
258:
251:
245:
238:
230:
226:
222:
217:
213:
208:
204:
196:
191:
187:
183:
178:
168:
164:
157:
150:
144:
137:
133:
127:
123:
119:
114:
110:
105:
101:
97:
93:
89:
85:
81:
77:
73:
69:
65:
61:
53:
48:
41:
36:
31:
27:
22:
16:
3079:Asparaginase
3057:oxaloacetate
2951:succinyl-CoA
2909:
2887:
2869:
2779:succinyl-CoA
2632:
2397:Kynureninase
2361:
2249:
2142:
1995:
1991:
1960:
1956:
1925:
1921:
1890:
1886:
1847:
1843:
1806:
1802:
1766:
1763:Biochemistry
1762:
1725:
1721:
1687:
1683:
1648:
1644:
1613:
1609:
1578:
1574:
1525:
1521:
1500:
1496:
1455:
1451:
1414:
1410:
1366:(4): 401–7.
1363:
1359:
1353:
1320:
1316:
1309:
1274:
1270:
1260:
1219:10.1038/7777
1213:(4): 434–9.
1210:
1206:
1200:
1170:(1): 69–74.
1167:
1163:
1157:
1148:
1139:
1130:
1121:
1062:
1017:
981:
973:
965:
964:
887:
865:NP_001182155
862:
836:
814:NM_001195226
811:
787:
768:
742:
723:
697:
678:
658:
653:
431:renal cortex
427:right kidney
423:human kidney
369:tibial nerve
335:
328:
55:External IDs
15:
2759:Glutaminase
2725:glutathione
2434:(see below)
1728:(1): 13–5.
1690:(1): 42–6.
1651:(1): 7e–7.
542:FAD binding
397:sural nerve
361:skin of leg
294:17,908,067
281:17,878,221
193:18,936,553
180:18,912,777
33:Identifiers
3066:asparagine
3042:Tyrosinase
2861:METHIONINE
2832:ISOLEUCINE
2681:Agmatinase
2374:TRYPTOPHAN
2265:acetyl-CoA
2229:Metabolism
1116:, May 2017
1095:, May 2017
1072:References
381:right lung
339:(ortholog)
76:HomoloGene
3070:aspartate
2931:THREONINE
2750:glutamine
2746:glutamate
2721:glutamate
2595:HISTIDINE
2581:glutamate
2557:threonine
2237:synthesis
2072:: CH-NH (
1045:rapamycin
1041:TCA cycle
1033:glutamate
890:NP_035302
869:NP_057419
839:NM_011172
818:NM_016335
644:Orthologs
84:GeneCards
3111:Category
3034:tyrosine
2998:tyrosine
2985:fumarate
2717:cysteine
2662:arginine
2538:cysteine
2500:creatine
2457:pyruvate
2426:tyrosine
2159:acceptor
2126:acceptor
2093:acceptor
2014:16791139
1979:16619034
1957:Oncogene
1944:16303758
1909:15914462
1874:15662599
1831:21756122
1823:15494707
1793:15449943
1750:43876243
1742:15274030
1712:22741500
1704:12815738
1675:12525555
1632:12514185
1597:12217952
1562:11891283
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1345:43512139
1337:17412540
1301:19415679
1235:10813774
1227:10192398
1192:13473036
1112:–
1091:–
1014:Function
986:proline
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373:amygdala
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2624:proline
2519:alanine
2496:glycine
2471:glycine
2462:citrate
2298:LEUCINE
2241:enzymes
2157:quinone
1865:1196393
1784:3727243
1666:1735267
1530:Bibcode
1488:4429638
1480:9305847
1460:Bibcode
1434:2573019
1380:4299764
1292:2801574
1184:9385373
1114:Ensembl
1093:Ensembl
1020:Proline
992:proline
756:UniProt
711:Ensembl
650:Species
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389:putamen
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659:Mouse
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443:liver
337:Mouse
330:Human
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212:Mouse
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1905:PMID
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1671:PMID
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