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LIAS
Identifiers
Aliases	LIAS, LAS, LIP1, LS, PDHLD, HUSSY-01, HGCLAS, lipoic acid synthetase
External IDs	OMIM: 607031; MGI: 1934604; HomoloGene: 4997; GeneCards: LIAS; OMA:LIAS - orthologs
Gene location (Human) Chr. Chromosome 4 (human) Band 4p14 Start 39,459,004 bp End 39,485,109 bp
Gene location (Mouse) Chr. Chromosome 5 (mouse) Band 5|5 C3.1 Start 65,548,840 bp End 65,568,036 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gonad muscle of thigh gastrocnemius muscle rectum right testis right lobe of liver left testis right adrenal gland body of pancreas mucosa of transverse colon Top expressed in facial motor nucleus medullary collecting duct olfactory epithelium hair follicle brown adipose tissue otic vesicle lacrimal gland saccule otic placode digastric muscle More reference expression data BioGPS n/a
Gene ontology Molecular function transferase activity 4 iron, 4 sulfur cluster binding iron-sulfur cluster binding catalytic activity metal ion binding lipoate synthase activity sulfurtransferase activity Cellular component mitochondrial matrix mitochondrion Biological process cellular nitrogen compound metabolic process lipoate biosynthetic process protein lipoylation neural tube closure inflammatory response response to oxidative stress response to lipopolysaccharide Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 11019 79464 Ensembl ENSG00000121897 ENSMUSG00000029199 UniProt O43766 Q99M04 RefSeq (mRNA) NM_001278590 NM_001278591 NM_001278592 NM_006859 NM_194451 NM_001363700 NM_024471 NM_001310612 RefSeq (protein) NP_001265519 NP_001265520 NP_001265521 NP_006850 NP_919433 NP_001350629 NP_001297541 NP_077791 Location (UCSC) Chr 4: 39.46 – 39.49 Mb Chr 5: 65.55 – 65.57 Mb PubMed search
Wikidata
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Lipoic acid synthetase is a protein that in humans is encoded by the LIAS gene.

Function

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 locus and two transcript variants encoding distinct isoforms have been identified. .

References

1. ^ GRCh38: Ensembl release 89: ENSG00000121897 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000029199 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: Lipoic acid synthetase". Retrieved 2018-02-17.

Further reading

• Padmalayam I, Hasham S, Saxena U, Pillarisetti S (2009). "Lipoic acid synthase (LASY): a novel role in inflammation, mitochondrial function, and insulin resistance". Diabetes. 58 (3): 600–8. doi:10.2337/db08-0473. PMC 2646058. PMID 19074983.
• 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). "Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression". PLOS ONE. 5 (9): e12862. Bibcode:2010PLoSO...512862H. doi:10.1371/journal.pone.0012862. PMC 2943476. PMID 20877624.
• Mayr JA, Zimmermann FA, Fauth C, Bergheim C, Meierhofer D, Radmayr D, Zschocke J, Koch J, Sperl W (2011). "Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation". Am. J. Hum. Genet. 89 (6): 792–7. doi:10.1016/j.ajhg.2011.11.011. PMC 3234378. PMID 22152680.
• 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 R, Coughlin CR, Spector E, Wempe MF, Van Hove JL (2014). "Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5". Brain. 137 (Pt 2): 366–79. doi:10.1093/brain/awt328. PMC 3914472. PMID 24334290.
• Tsurusaki Y, Tanaka R, Shimada S, Shimojima K, Shiina M, Nakashima M, Saitsu H, Miyake N, Ogata K, Yamamoto T, Matsumoto N (2015). "Novel compound heterozygous LIAS mutations cause glycine encephalopathy". J. Hum. Genet. 60 (10): 631–5. doi:10.1038/jhg.2015.72. PMID 26108146. S2CID 36140293.
• 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". J. Theor. Biol. 420: 259–266. Bibcode:2017JThBi.420..259K. doi:10.1016/j.jtbi.2016.09.005. PMID 27717843.

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