Identity
HGNC
LOCATION
4p14
LOCUSID
ALIAS
HGCLAS,HUSSY-01,LAS,LIP1,LS,PDHLD
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 11019
MIM: 607031
HGNC: 16429
Ensembl: ENSG00000121897
Variants:
dbSNP: 11019
ClinVar: 11019
TCGA: ENSG00000121897
COSMIC: LIAS
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37453661 | 2023 | FDX1 regulates cellular protein lipoylation through direct binding to LIAS. | 12 |
| 37453661 | 2023 | FDX1 regulates cellular protein lipoylation through direct binding to LIAS. | 12 |
| 33562493 | 2021 | Characterization and Reconstitution of Human Lipoyl Synthase (LIAS) Supports ISCA2 and ISCU as Primary Cluster Donors and an Ordered Mechanism of Cluster Assembly. | 11 |
| 33562493 | 2021 | Characterization and Reconstitution of Human Lipoyl Synthase (LIAS) Supports ISCA2 and ISCU as Primary Cluster Donors and an Ordered Mechanism of Cluster Assembly. | 11 |
| 27717843 | 2017 | Homology modeling of Homo sapiens lipoic acid synthase: Substrate docking and insights on its binding mode. | 5 |
| 27717843 | 2017 | Homology modeling of Homo sapiens lipoic acid synthase: Substrate docking and insights on its binding mode. | 5 |
| 27923773 | 2016 | Mitochondrial Protein Lipoylation and the 2-Oxoglutarate Dehydrogenase Complex Controls HIF1α Stability in Aerobic Conditions. | 83 |
| 27923773 | 2016 | Mitochondrial Protein Lipoylation and the 2-Oxoglutarate Dehydrogenase Complex Controls HIF1α Stability in Aerobic Conditions. | 83 |
| 26108146 | 2015 | Novel compound heterozygous LIAS mutations cause glycine encephalopathy. | 6 |
| 26108146 | 2015 | Novel compound heterozygous LIAS mutations cause glycine encephalopathy. | 6 |
| 24334290 | 2014 | Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5. | 84 |
| 24334290 | 2014 | Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5. | 84 |
| 22152680 | 2011 | Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation. | 45 |
| 22152680 | 2011 | Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation. | 45 |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. | 20 |
Citation
Dessen P
LIAS (lipoic acid synthetase)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/65259/lias-(lipoic-acid-synthetase)
