Gene Symbol | GCLC |
Entrez Gene ID | 2729 |
Full Name | glutamate-cysteine ligase catalytic subunit |
Synonyms | GCL,GCS,GLCL,GLCLC |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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.[provided by RefSeq, Oct 2010]. |
Disorder MIM: | |
Disorder Html: | Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450 (3); {Myocardial infarction, susceptibility to}, 608446 (3) |