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.
