LIAS, Official Symbol LIASprovided by HGNC Official Full Name lipoic acid synthetaseprovided by HGNC Primary source HGNC:HGNC:16429 See related Ensembl:ENSG00000121897 MIM:607031; AllianceGenome:HGNC:16429 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LS; LAS; LIP1; PDHLD; HGCLAS; HUSSY-01 Summary 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] Expression Ubiquitous expression in testis (RPKM 5.3), ovary (RPKM 4.0) and 25 other tissues See more Orthologs mouse all