LIAS (gene)
| LIAS | |||
|---|---|---|---|
| Identifiers | |||
Gene ontology | |||
| Molecular function | |||
| Cellular component | |||
| Biological process | |||
| Sources:Amigo / QuickGO | |||
Ensembl | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| UniProt | |||||||||
| RefSeq (mRNA) |
| ||||||||
| RefSeq (protein) |
| ||||||||
| Location (UCSC) | Chr 4: 39.46 – 39.49 Mb | Chr 5: 65.55 – 65.57 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| 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.
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. 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. 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. 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. 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. 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. 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.