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MGP001222

UniProt Annotations

Entry Information
Gene Nameglutamate-cysteine ligase, catalytic subunit
Protein EntryGSH1_HUMAN
UniProt IDP48506
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityATP + L-glutamate + L-cysteine = ADP + phosphate + gamma-L-glutamyl-L-cysteine.
DiseaseHemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD) [MIM:230450]: A disease characterized by hemolytic anemia, glutathione deficiency, myopathy, late-onset spinocerebellar degeneration, and peripheral neuropathy. {ECO:0000269|PubMed:10515893, ECO:0000269|PubMed:10733484, ECO:0000269|PubMed:12663448}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme RegulationFeedback inhibition by glutathione.
PathwaySulfur metabolism; glutathione biosynthesis; glutathione from L-cysteine and L-glutamate: step 1/2.
SimilarityBelongs to the glutamate--cysteine ligase type 3 family. {ECO:0000305}.
SubunitHeterodimer of a catalytic heavy chain and a regulatory light chain.
Web ResourceName=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/gclc/";
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