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],catalytic activity:ATP + L-glutamate + L-cysteine = ADP + phosphate + gamma-L-glutamyl-L-cysteine.,disease:Defects in GCLC are the cause of hemolytic anemia [MIM:230450].,enzyme regulation:Feedback inhibition by glutathione.,pathway:Sulfur metabolism, glutathione biosynthesis, glutathione from L-cysteine and L-glutamate: step 1/2.,similarity:Belongs to the glutamate--cysteine ligase type 3 family.,subunit:Heterodimer of a catalytic heavy chain and a regulatory light chain.,
