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MGP001347

UniProt Annotations

Entry Information
Gene Nameglutathione synthetase
Protein EntryGSHB_HUMAN
UniProt IDP48637
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P48637-1; Sequence=Displayed; Name=2; IsoId=P48637-2; Sequence=VSP_047617; Note=Detected in colon, kidney, lung, liver, placenta, peripheral blood and uterus, but not in heart, skeletal muscle and spleen.;
Catalytic ActivityATP + gamma-L-glutamyl-L-cysteine + glycine = ADP + phosphate + glutathione.
CofactorName=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence={ECO:0000269|PubMed:10369661}; Note=Binds 1 Mg(2+) ion per subunit. {ECO:0000269|PubMed:10369661};
DiseaseGlutathione synthetase deficiency (GSS deficiency) [MIM:266130]: Severe form characterized by an increased rate of hemolysis and defective function of the central nervous system. {ECO:0000269|PubMed:8896573, ECO:0000269|PubMed:9215686}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseGlutathione synthetase deficiency of erythrocytes (GLUSYNDE) [MIM:231900]: Mild form causing hemolytic anemia. Note=The disease is caused by mutations affecting the gene represented in this entry.
PathwaySulfur metabolism; glutathione biosynthesis; glutathione from L-cysteine and L-glutamate: step 2/2.
SimilarityBelongs to the eukaryotic GSH synthase family. {ECO:0000305}.
SubunitHomodimer. {ECO:0000269|PubMed:10369661}.
Web ResourceName=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/gss/";
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