Synonyms: EC 126.96.36.199,Gamma ECS,Gamma glutamylcysteine synthetase,Gamma-ECS,Gamma-glutamylcysteine synthetase,GCL,Gclc,GCS,GCS heavy chain,GLCL,GLCLC,Glutamate cysteine ligase catalytic subunit,Glutamate--cysteine ligase catalytic subunit,GSH1
Background: 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.