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Immunogen sequence: FENSAYVVFV VLLTRVILSY KLDFLIPLSK VDENMKVAQK RDAVLQGMFY FRKDICKGGN AVVDGCGKAQ NSTELAAEEY TLMSIDTIIN GKEGVFPGLI P
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-ECS; Gamma-glutamylcysteine synthetase; GCS heavy chain; Glutamate--cysteine ligase catalytic subunit; glutamate-cysteine ligase, catalytic subunit
Gene Aliases: GCL; GCLC; GCS; GLCL; GLCLC
UniProt ID: (Human) P48506
Entrez Gene ID: (Human) 2729
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