rs1320749254
This variant is located in the LIAS gene.
▶ClinVar annotation
Lipoic acid synthetase deficiency
View on ClinVar →About LIAS
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]
View all LIAS variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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