Glutamate--Cysteine Ligase Catalytic Subunit (GCLC) Reagents

Glutamate--cysteine ligase catalytic subunit

Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD)

Glutamate--cysteine ligase type 3 family

EC 6.3.2.2; 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_HUMAN

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.