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LIAS

Official Full Name
lipoic acid synthetase
Organism
Homo sapiens
GeneID
11019
Background
The protein encoded by this gene belongs to the biotin and lipoic acid synthetases family. Localized in the mitochondrion, this iron-sulfur enzyme catalyzes the final step in the de novo pathway for the biosynthesis of lipoic acid, a potent antioxidant. The deficient expression of this enzyme has been linked to conditions such as diabetes, atherosclerosis and neonatal-onset epilepsy. Alternative splicing occurs at this locus, and several transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Aug 2020]
Synonyms
LS; LAS; LIP1; PDHLD; HGCLAS; HUSSY-01;

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