GSS Chromosome 20
Glutathione synthetase
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What This Gene Does
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]
Associated Conditions (5)
Glutathione synthetase deficiency with 5-oxoprolinuria
Inherited glutathione synthetase deficiency
Inborn genetic diseases
GSS-related disorder
Glutathione synthetase deficiency without 5-oxoprolinuria
Key Variants
RS11905938
Conflicting classifications of pathogenicity
Glutathione synthetase deficiency with 5-oxoprolinuria, Glutathione synthetase deficiency with 5-oxoprolinuria
Health Risk
RS1303788392
Conflicting classifications of pathogenicity
Inherited glutathione synthetase deficiency, Inborn genetic diseases, Inherited glutathione synthetase deficiency
Health Risk
RS138574949
Conflicting classifications of pathogenicity
Inherited glutathione synthetase deficiency, Inborn genetic diseases, GSS-related disorder
Health Risk
RS141866304
Conflicting classifications of pathogenicity
Inherited glutathione synthetase deficiency, Inborn genetic diseases, Glutathione synthetase deficiency with 5-oxoprolinuria
Health Risk
RS143974068
Conflicting classifications of pathogenicity
Inherited glutathione synthetase deficiency, Inborn genetic diseases, Inherited glutathione synthetase deficiency
Health Risk
RS146267300
Conflicting classifications of pathogenicity
Inherited glutathione synthetase deficiency, Glutathione synthetase deficiency with 5-oxoprolinuria, Inherited glutathione synthetase deficiency
Health Risk
RS148640446
Conflicting classifications of pathogenicity
Inherited glutathione synthetase deficiency, GSS-related disorder, Glutathione synthetase deficiency with 5-oxoprolinuria
Health Risk
RS150141794
Conflicting classifications of pathogenicity
Inherited glutathione synthetase deficiency, Glutathione synthetase deficiency with 5-oxoprolinuria, Inherited glutathione synthetase deficiency
Health Risk
RS192442930
Conflicting classifications of pathogenicity
Inherited glutathione synthetase deficiency, Inherited glutathione synthetase deficiency
Health Risk
RS193267972
Conflicting classifications of pathogenicity
Inherited glutathione synthetase deficiency, Inborn genetic diseases, Inherited glutathione synthetase deficiency
Health Risk
RS201359061
Conflicting classifications of pathogenicity
Inherited glutathione synthetase deficiency, Inherited glutathione synthetase deficiency
Health Risk
RS2081519190
Conflicting classifications of pathogenicity
Glutathione synthetase deficiency with 5-oxoprolinuria, Glutathione synthetase deficiency with 5-oxoprolinuria
Health Risk
All Variants (64)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS983871391 | Health Risk | Pathogenic | Glutathione synthetase deficiency with 5-oxoprolinuria, Glutathione synthetase deficiency with 5-oxoprolinuria |
| RS121909308 | Health Risk | Pathogenic/Likely pathogenic | Glutathione synthetase deficiency with 5-oxoprolinuria, Glutathione synthetase deficiency without 5-oxoprolinuria, Glutathione synthetase deficiency with 5-oxoprolinuria |
| RS121909309 | Health Risk | Pathogenic/Likely pathogenic | Inherited glutathione synthetase deficiency, Glutathione synthetase deficiency with 5-oxoprolinuria, Inherited glutathione synthetase deficiency |
| RS1486049191 | Health Risk | Pathogenic/Likely pathogenic | Glutathione synthetase deficiency without 5-oxoprolinuria, Glutathione synthetase deficiency with 5-oxoprolinuria, Glutathione synthetase deficiency without 5-oxoprolinuria |
| RS201925123 | Health Risk | Pathogenic/Likely pathogenic | Inherited glutathione synthetase deficiency, Glutathione synthetase deficiency with 5-oxoprolinuria, Glutathione synthetase deficiency without 5-oxoprolinuria |
| RS2081381650 | Health Risk | Pathogenic/Likely pathogenic | Glutathione synthetase deficiency with 5-oxoprolinuria, Glutathione synthetase deficiency without 5-oxoprolinuria, Glutathione synthetase deficiency with 5-oxoprolinuria |
| RS2519043780 | Health Risk | Pathogenic/Likely pathogenic | Glutathione synthetase deficiency without 5-oxoprolinuria, Glutathione synthetase deficiency with 5-oxoprolinuria, Glutathione synthetase deficiency without 5-oxoprolinuria |
| RS28936396 | Health Risk | Pathogenic/Likely pathogenic | Glutathione synthetase deficiency with 5-oxoprolinuria, Glutathione synthetase deficiency without 5-oxoprolinuria, Glutathione synthetase deficiency with 5-oxoprolinuria |
| RS28938472 | Health Risk | Pathogenic/Likely pathogenic | Glutathione synthetase deficiency without 5-oxoprolinuria, Inherited glutathione synthetase deficiency, Glutathione synthetase deficiency with 5-oxoprolinuria |
| RS752560204 | Health Risk | Pathogenic/Likely pathogenic | Inherited glutathione synthetase deficiency, Glutathione synthetase deficiency with 5-oxoprolinuria, Glutathione synthetase deficiency without 5-oxoprolinuria |
| RS757968278 | Health Risk | Pathogenic/Likely pathogenic | Glutathione synthetase deficiency without 5-oxoprolinuria, Glutathione synthetase deficiency with 5-oxoprolinuria, Glutathione synthetase deficiency without 5-oxoprolinuria |
| RS765110067 | Health Risk | Pathogenic/Likely pathogenic | Glutathione synthetase deficiency without 5-oxoprolinuria, Glutathione synthetase deficiency with 5-oxoprolinuria, Glutathione synthetase deficiency without 5-oxoprolinuria |
| RS770455024 | Health Risk | Pathogenic/Likely pathogenic | Glutathione synthetase deficiency with 5-oxoprolinuria, Glutathione synthetase deficiency without 5-oxoprolinuria, Glutathione synthetase deficiency with 5-oxoprolinuria |
| RS773018519 | Health Risk | Pathogenic/Likely pathogenic | Glutathione synthetase deficiency without 5-oxoprolinuria, Glutathione synthetase deficiency with 5-oxoprolinuria, Glutathione synthetase deficiency without 5-oxoprolinuria |