LongevityMap Gene
Gene details
- HGNC symbol
- GCLC
- Aliases
- GCL; GCS; GLCL; GLCLC
- Common name
- glutamate-cysteine ligase catalytic subunit
- Description
- Glutamate-cysteine ligase, also known as gamma-glutamylcysteine synthetase is the first rate-limiting enzyme of glutathione synthesis. The enzyme consists of two subunits, a heavy catalytic subunit and a light regulatory subunit. This locus encodes the catalytic subunit, while the regulatory subunit is derived from a different gene located on chromosome 1p22-p21. Mutations at this locus have been associated with hemolytic anemia due to deficiency of gamma-glutamylcysteine synthetase and susceptibility to myocardial infarction.[provided by RefSeq, Oct 2010]
- Cytogenetic Location
- 6p12.1
- UCSC Genome Browser
- View 6p12.1 on the UCSC genome browser
- OMIM
- 606857
- Ensembl
- ENSG00000001084
- UniProt/Swiss-Prot
- E1CEI4_HUMAN
- Entrez Gene
- 2729
- UniGene
- 654465
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
- Caenorhabditis elegans
- gcs-1
- Danio rerio
- gclc
- Drosophila melanogaster
- Gclc
- Mus musculus
- Gclc
- Rattus norvegicus
- Gclc
- Saccharomyces cerevisiae
- GSH1
- Schizosaccharomyces pombe
- gcs1
In other databases
- GenAge model organism genes
- A homolog of this gene for Drosophila melanogaster is present as Gclc
- GenAge human genes
- This gene is present as GCLC
- GenDR gene manipulations
- A homolog of this gene for Saccharomyces cerevisiae is present as GSH1
Studies (1)
Significant/Non-significant: 0/1
- Longevity Association
- Non-significant
- Population
- Danish
- Study Design
- 38 genes (311 SNPs) belonging to pro-antioxidant pathways were investigated for the association with physical and cognitive performances in a Cohort of 1089 Danish nonagenarians. For each gene analyzed in the pro-antioxidant pathway, the influence on longitudinal survival was tested.
- Conclusions
- No gene found associated with a functional phenotype showed a corresponding association with survival in the whole cohort. NDUFS1, TXNRD1, SOD2 and UCP3 were found significantly associated with lifespan in the female cohort. No association with survival was reported in males for genes belonging to the pro-oxidant pathway here analyzed.
- Indentifier
- rs12524494
- Reference