Aliases for LIAS Gene
External Ids for LIAS Gene
Previous GeneCards Identifiers for LIAS Gene
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]
GeneCards Summary for LIAS Gene
LIAS (Lipoic Acid Synthetase) is a Protein Coding gene. Diseases associated with LIAS include Hyperglycinemia, Lactic Acidosis, And Seizures and Lipoic Acid Synthetase Deficiency. Among its related pathways are Viral mRNA Translation and Lipoic acid metabolism. Gene Ontology (GO) annotations related to this gene include 4 iron, 4 sulfur cluster binding and lipoate synthase activity.
UniProtKB/Swiss-Prot Summary for LIAS Gene
Catalyzes the radical-mediated insertion of two sulfur atoms into the C-6 and C-8 positions of the octanoyl moiety bound to the lipoyl domains of lipoate-dependent enzymes, thereby converting the octanoylated domains into lipoylated derivatives.