LIAS (gene) explained

Lipoic acid synthetase is a protein that in humans is encoded by the LIAS gene.^[1]

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].

Further reading

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

Notes and References

1. Web site: Entrez Gene: Lipoic acid synthetase. 2018-02-17.