LIAS (gene)

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)
End	39,485,109 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	65,568,036 bp
RNA expression pattern
	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
	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
	11019
	79464
	ENSG00000121897
	ENSMUSG00000029199
	O43766
	Q99M04
NM_001278590; NM_001278591; NM_001278592; NM_006859; NM_194451;
	NM_001363700
	NM_024471; NM_001310612
NP_001265519; NP_001265520; NP_001265521; NP_006850; NP_919433;
	NP_001350629
	NP_001297541; NP_077791
	Wikidata
View/Edit Human	View/Edit Mouse

Lipoic acid synthetase is a protein that in humans is encoded by the LIAS gene. ^[5]

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. [provided by RefSeq, Jul 2008].

References

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

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.

This article on a gene on human chromosome 4 is a stub. You can help Wikipedia by expanding it.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000121897 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[entrez-5] "Entrez Gene: Lipoic acid synthetase". Retrieved 2018-02-17.

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Function

References

Further reading