Gene Symbol | GSS |
Entrez Gene ID | 2937 |
Full Name | glutathione synthetase |
Synonyms | GSHS,HEL-S-64p,HEL-S-88n |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | Glutathione is important for a variety of biological functions, including protection of cells from oxidative damage by free radicals, detoxification of xenobiotics, and membrane transport. The protein encoded by this gene functions as a homodimer to catalyze the second step of glutathione biosynthesis, which is the ATP-dependent conversion of gamma-L-glutamyl-L-cysteine to glutathione. Defects in this gene are a cause of glutathione synthetase deficiency. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Hemolytic anemia due to glutathione synthetase deficiency, 231900 (3); Glutathione synthetase deficiency, 266130 (3) |