242:
219:
141:
116:
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147:
1427:
1033:
The protein encoded by this gene belongs to the biotin and lipoic acid synthetases family. It localizes in mitochondrion and plays an important role in alpha-(+)-lipoic acid synthesis. It may also function in the sulfur insertion chemistry in lipoate biosynthesis. Alternative splicing occurs at this
1293:
Baker PR, Friederich MW, Swanson MA, Shaikh T, Bhattacharya K, Scharer GH, Aicher J, Creadon-Swindell G, Geiger E, MacLean KN, Lee WT, Deshpande C, Freckmann ML, Shih LY, Wasserstein M, Rasmussen MB, Lund AM, Procopis P, Cameron JM, Robinson BH, Brown GK, Brown RM, Compton AG, Dieckmann CL, Collard
255:
154:
1380:
Krishnamoorthy E, Hassan S, Hanna LE, Padmalayam I, Rajaram R, Viswanathan V (2017). "Homology modeling of Homo sapiens lipoic acid synthase: Substrate docking and insights on its binding mode".
1197:
Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ (2010).
707:
688:
77:
1111:
1093:
1484:
955:
1252:"Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation"
962:
1337:
Tsurusaki Y, Tanaka R, Shimada S, Shimojima K, Shiina M, Nakashima M, Saitsu H, Miyake N, Ogata K, Yamamoto T, Matsumoto N (2015).
1509:
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241:
1080:
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218:
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733:
1156:"Lipoic acid synthase (LASY): a novel role in inflammation, mitochondrial function, and insulin resistance"
140:
115:
57:
1250:
Mayr JA, Zimmermann FA, Fauth C, Bergheim C, Meierhofer D, Radmayr D, Zschocke J, Koch J, Sperl W (2011).
254:
153:
1465:
247:
146:
44:
1296:"Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5"
934:
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1325:
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1238:
1185:
1034:
locus and two transcript variants encoding distinct isoforms have been identified. .
37:
1372:
1199:"Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression"
69:
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93:
1116:
National Center for
Biotechnology Information, U.S. National Library of Medicine
1098:
National Center for
Biotechnology Information, U.S. National Library of Medicine
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1189:
327:
106:
1129:
1002:
997:
1339:"Novel compound heterozygous LIAS mutations cause glycine encephalopathy"
797:
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1355:
1338:
540:
226:
123:
73:
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719:
637:
633:
61:
48:, LAS, LIP1, LS, PDHLD, HUSSY-01, HGCLAS, lipoic acid synthetase
1336:
970:
674:
1292:
1434:
1426:
1249:
1022:
1294:
R, Coughlin CR, Spector E, Wempe MF, Van Hove JL (2014).
1154:
Padmalayam I, Hasham S, Saxena U, Pillarisetti S (2009).
317:
482:
1072:
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264:
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1065:
1044:
16:Protein-coding gene in the species Homo sapiens
1077:GRCm38: Ensembl release 89: ENSMUSG00000029199
1466:
593:cellular nitrogen compound metabolic process
1056:GRCh38: Ensembl release 89: ENSG00000121897
1485:United States National Library of Medicine
1473:
1459:
1354:
1319:
1275:
1232:
1222:
1179:
1483:This article incorporates text from the
1497:
1021:that in humans is encoded by the LIAS
1130:"Entrez Gene: Lipoic acid synthetase"
1122:
269:
230:
225:
168:
127:
122:
1421:
13:
1146:
14:
1521:
1425:
531:4 iron, 4 sulfur cluster binding
253:
246:
240:
217:
152:
145:
139:
114:
1104:
1086:
623:response to lipopolysaccharide
471:More reference expression data
1:
1510:Human chromosome 4 gene stubs
1037:
238:
137:
1445:. You can help Knowledge by
1224:10.1371/journal.pone.0012862
618:response to oxidative stress
598:lipoate biosynthetic process
7:
1505:Genes on human chromosome 4
1028:
536:iron-sulfur cluster binding
10:
1526:
1420:
1402:10.1016/j.jtbi.2016.09.005
1268:10.1016/j.ajhg.2011.11.011
556:sulfurtransferase activity
395:mucosa of transverse colon
1112:"Mouse PubMed Reference:"
1094:"Human PubMed Reference:"
1001:
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727:
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686:
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551:lipoate synthase activity
511:
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425:medullary collecting duct
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52:
42:
35:
30:
26:
21:
963:Chr 5: 65.55 – 65.57 Mb
956:Chr 4: 39.46 – 39.49 Mb
1015:Lipoic acid synthetase
613:inflammatory response
1312:10.1093/brain/awt328
572:mitochondrial matrix
526:transferase activity
437:brown adipose tissue
429:olfactory epithelium
421:facial motor nucleus
367:gastrocnemius muscle
232:Chromosome 5 (mouse)
130:Chromosome 4 (human)
1394:2017JThBi.420..259K
1356:10.1038/jhg.2015.72
1215:2010PLoSO...512862H
608:neural tube closure
603:protein lipoylation
387:right adrenal gland
379:right lobe of liver
1487:, which is in the
1433:This article on a
753:ENSMUSG00000029199
586:Biological process
565:Cellular component
541:catalytic activity
519:Molecular function
1454:
1453:
1256:Am. J. Hum. Genet
1172:10.2337/db08-0473
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546:metal ion binding
503:
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1306:(Pt 2): 366–79.
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880:RefSeq (protein)
870:
854:
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812:
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769:
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743:
725:
724:
699:
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649:
648:
509:
508:
488:
487:
473:
457:digastric muscle
413:
411:Top expressed in
406:
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391:body of pancreas
351:
349:Top expressed in
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94:LIAS - orthologs
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1147:Further reading
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1003:View/Edit Mouse
998:View/Edit Human
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951:Location (UCSC)
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734:ENSG00000121897
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363:muscle of thigh
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208:Gene location (
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105:Gene location (
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1382:J. Theor. Biol
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1489:public domain
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1349:(10): 631–5.
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1343:J. Hum. Genet
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1209:(9): e12862.
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809:RefSeq (mRNA)
807:
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577:mitochondrion
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514:
513:Gene ontology
510:
506:
494:
489:
486:
484:
480:
472:
467:
456:
452:
448:
444:
440:
436:
433:hair follicle
432:
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271:5|5 C3.1
267:
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63:
59:
51:
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39:
34:
29:
25:
20:
1482:
1481:
1447:expanding it
1439:chromosome 4
1432:
1417:
1385:
1381:
1346:
1342:
1303:
1299:
1262:(6): 792–7.
1259:
1255:
1206:
1202:
1166:(3): 600–8.
1163:
1159:
1133:. Retrieved
1124:
1115:
1106:
1097:
1088:
1032:
1014:
1013:
935:NP_001297541
932:
914:NP_001350629
911:
896:NP_001265521
892:NP_001265520
888:NP_001265519
868:NM_001310612
861:
843:NM_001363700
840:
825:NM_001278592
821:NM_001278591
817:NM_001278590
796:
777:
751:
732:
706:
687:
667:
662:
453:otic placode
441:otic vesicle
375:right testis
333:
326:
53:External IDs
1388:: 259–266.
383:left testis
292:65,568,036
279:65,548,840
191:39,485,109
178:39,459,004
31:Identifiers
1499:Categories
1135:2018-02-17
1083:, May 2017
1062:, May 2017
1038:References
337:(ortholog)
74:HomoloGene
1437:on human
939:NP_077791
904:NP_919433
900:NP_006850
864:NM_024471
833:NM_194451
829:NM_006859
653:Orthologs
82:GeneCards
1410:27717843
1373:36140293
1365:26108146
1330:24334290
1286:22152680
1243:20877624
1203:PLOS ONE
1190:19074983
1160:Diabetes
1079:–
1058:–
1029:Function
987:Wikidata
632:Sources:
1390:Bibcode
1321:3914472
1277:3234378
1234:2943476
1211:Bibcode
1181:2646058
1081:Ensembl
1060:Ensembl
1019:protein
765:UniProt
720:Ensembl
659:Species
638:QuickGO
449:saccule
312:pattern
70:1934604
38:Aliases
1408:
1371:
1363:
1328:
1318:
1284:
1274:
1241:
1231:
1188:
1178:
973:search
971:PubMed
798:Q99M04
779:O43766
675:Entrez
483:BioGPS
371:rectum
62:607031
1441:is a
1369:S2CID
1300:Brain
1017:is a
708:79464
689:11019
668:Mouse
663:Human
634:Amigo
359:gonad
335:Mouse
328:Human
275:Start
210:Mouse
174:Start
107:Human
1443:stub
1435:gene
1406:PMID
1361:PMID
1326:PMID
1282:PMID
1239:PMID
1186:PMID
1023:gene
318:Bgee
266:Band
227:Chr.
170:4p14
165:Band
124:Chr.
86:LIAS
78:4997
58:OMIM
45:LIAS
22:LIAS
1398:doi
1386:420
1351:doi
1316:PMC
1308:doi
1304:137
1272:PMC
1264:doi
1229:PMC
1219:doi
1176:PMC
1168:doi
491:n/a
288:End
187:End
90:OMA
66:MGI
1501::
1404:.
1396:.
1384:.
1367:.
1359:.
1347:60
1345:.
1341:.
1324:.
1314:.
1302:.
1298:.
1280:.
1270:.
1260:89
1258:.
1254:.
1237:.
1227:.
1217:.
1205:.
1201:.
1184:.
1174:.
1164:58
1162:.
1158:.
1114:.
1096:.
1067:^
1046:^
1025:.
636:/
294:bp
281:bp
193:bp
180:bp
88:;
84::
80:;
76::
72:;
68::
64:;
60::
1491:.
1474:e
1467:t
1460:v
1449:.
1412:.
1400::
1392::
1375:.
1353::
1332:.
1310::
1288:.
1266::
1245:.
1221::
1213::
1207:5
1192:.
1170::
1138:.
1118:.
1100:.
212:)
109:)
92::
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