LIAS

The protein encoded by this gene belongs to the biotin and lipoic acid synthetases family. It localizes in mitochondrion and plays an important role in alpha-(+)-lipoic acid synthesis. It may also function in the sulfur insertion chemistry in lipoate biosynthesis. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq]

Full Name

lipoic acid synthetase

Function

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.

Biological Process

Inflammatory responseISS:UniProtKB
Lipoate biosynthetic processISS:UniProtKB
Neural tube closureIEA:Ensembl
Protein lipoylationIEA:UniProtKB-UniRule
Response to lipopolysaccharideISS:UniProtKB
Response to oxidative stressISS:UniProtKB

Cellular Location

Mitochondrion

Involvement in disease

Hyperglycinemia, lactic acidosis, and seizures (HGCLAS):
An enzymatic defect resulting in an autosomal recessive disorder of mitochondrial metabolism. It is characterized by early-onset lactic acidosis, severe encephalomyopathy, and a pyruvate oxidation defect. Affected individuals have neonatal-onset epilepsy, poor growth, psychomotor retardation, muscular hypotonia, lactic acidosis, and elevated glycine concentration in plasma and urine.