LIAS gene

lipoic acid synthetase

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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, Jul 2008]

From UniProt:

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.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Pyruvate dehydrogenase lipoic acid synthetase deficiency

From UniProt:

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. [MIM:614462]

Cytogenetic Location: 4p14, which is the short (p) arm of chromosome 4 at position 14

Molecular Location: base pairs 39,459,022 to 39,477,653 on chromosome 4 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 4p14, which is the short (p) arm of chromosome 4 at position 14
  • HUSSY-01
  • LAS
  • LIP1
  • LS