Protein Name | glutamate-cysteine ligase catalytic subunit |
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Organism | Homo sapiens |
Gene ID | 2729 |
Gene Symbol | GCLC |
UniProt | P48506 (GSH1_HUMAN), Q14TF0 (Q14TF0_HUMAN), E1CEI4 (E1CEI4_HUMAN) |
Relationships |
Total Number of functionally related compound(s) :
379
Total Number of Articles : 674 |
Description |
glutamate-cysteine ligase catalytic subunit |
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.[provided by RefSeq, Oct 2010] |
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