Entrez gene ID | | 2729 |
Official gene symbol | | GCLC |
Full name | | glutamate-cysteine ligase, catalytic subunit |
Aliases | | ,GCL,GCS,GLCL,GLCLC, |
Gene summary | | 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. |
Location | | Chromosome: 6 Locus: 6p12 |
Gene position | | 53409831 - 53362139 Map Viewer |
Gene orientation | | minus |
Gene size | | 47693 bp |
Gene sequence |
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OMIM ID | | 606857 |
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