Sequence of this protein is as follows: EGVFPGLIPI LNSYLENMEV DVDTRCSILN YLKLIKKRAS GELMTVARWM REFIANHPDY KQDSVITDEM NYSLILKCNQ IANELCECPE LLGSAFRKVK YSGSKTDSSN
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.
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Protein Aliases: gamma GCS-HS; Gamma-ECS; Gamma-glutamylcysteine synthetase; gamma-glutamylcysteine synthetase heavy subunit; GCS heavy chain; Glutamate--cysteine ligase catalytic subunit; glutamate-cysteine ligase, catalytic subunit; Glutamylcysteine gamma synthetase light chain
Gene Aliases: D9Wsu168e; GCL; GCLC; GCS; Ggcs-hs; GLCL; GLCL-H; GLCLC
Molecular Function: ligase