Synonyms:ENTREZ:11019, HGCLAS, HGNC:16429, HUSSY-01, LAS, LIAS, LIP1, LS, MIM:607031, NM_001278590, NM_001278591, NM_001278592, NM_001363700, NM_006859, NM_194451, NP_001265519, NP_001265520, NP_001265521, NP_001350629, NP_006850, NP_919433, PDHLD, lipoic acid synthetase
Omim:OMIM:607031
Id:ENSG00000121897
Hgnc:HGNC:16429
Description:lipoic acid synthetase
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]