Liponihaponsyntaasin geeni LIAS

http://www.ncbi.nlm.nih.gov/gene/11019

Official Symbol

LIASprovided by HGNC

Official Full Name

lipoic acid synthetaseprovided by HGNC

Primary source

HGNC:HGNC:16429

See related

Ensembl:ENSG00000121897; HPRD:09514; MIM:607031; Vega:OTTHUMG00000099369

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; HUSSY-01

Summary

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]

Orthologs

Related articles in PubMed

1. Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation. Mayr JA, et al. Am J Hum Genet, 2011 Dec 9. PMID 22152680, Free PMC Article
2. Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5. Baker PR 2nd, et al. Brain, 2014 Feb. PMID 24334290, Free PMC Article
3. Lipoic acid synthase (LASY): a novel role in inflammation, mitochondrial function, and insulin resistance. Padmalayam I, et al. Diabetes, 2009 Mar. PMID 19074983, Free PMC Article
4. Do mammalian cells synthesize lipoic acid? Identification of a mouse cDNA encoding a lipoic acid synthase located in mitochondria. Morikawa T, et al. FEBS Lett, 2001 Jun 1. PMID 11389890
5. Characterization of 16 novel human genes showing high similarity to yeast sequences. Stanchi F, et al. Yeast, 2001 Jan 15. PMID 11124703

See all (10) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

mouse all

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

1. Patients with LIAS nonketotic hyperglycinemia varied in disease severity and cortical involvement.
2. We identified the homozygous mutation c.746G>A (p.Arg249His) in LIAS in an individual with neonatal-onset epilepsy, muscular hypotonia, lactic acidosis, and elevated glycine concentration in plasma and urine
3. Observational study of gene-disease association. (HuGE Navigator)
4. Lipoic acid synthetase deficiency results in an overall disturbance in the antioxidant defense network, leading to increased inflammation, insulin resistance, and mitochondrial dysfunction.

Submit: New GeneRIF Correction

Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Pyruvate dehydrogenase lipoic acid synthetase deficiency MedGen: C3280887 OMIM: 614462 GeneReviews: Not available

Pyruvate dehydrogenase lipoic acid synthetase deficiency is an autosomal recessive disorder of mitochondrial metabolism characterized by early-onset lactic acidosis, severe encephalomyopathy, and a pyruvate oxidation defect (Mayr et al., 2011). [from OMIM]

Pathways from BioSystems

• Glyoxylate metabolism and glycine degradation, organism-specific biosystem (from REACTOME)
• Lipoic acid metabolism, organism-specific biosystem (from KEGG)
• Lipoic acid metabolism, conserved biosystem (from KEGG)
• Metabolic pathways, organism-specific biosystem (from KEGG)
• Metabolism, organism-specific biosystem (from REACTOME)
• Metabolism of amino acids and derivatives, organism-specific biosystem (from REACTOME)
• lipoate biosynthesis and incorporation, organism-specific biosystem (from BIOCYC)