GCLC Chromosome 6
Glutamate-cysteine ligase catalytic subunit
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What This Gene Does
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.[provided by RefSeq, Oct 2010]
Associated Conditions (3)
Gamma-glutamylcysteine synthetase deficiency
Familial cancer of breast
GCLC-related disorder
Key Variants
RS147154581
Conflicting classifications of pathogenicity
Health Risk
RS151321990
Conflicting classifications of pathogenicity
Health Risk
RS1554152412
Conflicting classifications of pathogenicity
Gamma-glutamylcysteine synthetase deficiency, Gamma-glutamylcysteine synthetase deficiency
Health Risk
RS199775302
Conflicting classifications of pathogenicity
Familial cancer of breast, Familial cancer of breast
Health Risk
RS201410638
Conflicting classifications of pathogenicity
Health Risk
RS368320861
Conflicting classifications of pathogenicity
Health Risk
RS368905821
Conflicting classifications of pathogenicity
Gamma-glutamylcysteine synthetase deficiency, Gamma-glutamylcysteine synthetase deficiency
Health Risk
RS80120302
Conflicting classifications of pathogenicity
GCLC-related disorder, GCLC-related disorder
Health Risk
RS121907946
Pathogenic
Gamma-glutamylcysteine synthetase deficiency, Gamma-glutamylcysteine synthetase deficiency
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS147154581 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS151321990 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1554152412 | Health Risk | Conflicting classifications of pathogenicity | Gamma-glutamylcysteine synthetase deficiency, Gamma-glutamylcysteine synthetase deficiency |
| RS199775302 | Health Risk | Conflicting classifications of pathogenicity | Familial cancer of breast, Familial cancer of breast |
| RS201410638 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS368320861 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS368905821 | Health Risk | Conflicting classifications of pathogenicity | Gamma-glutamylcysteine synthetase deficiency, Gamma-glutamylcysteine synthetase deficiency |
| RS80120302 | Health Risk | Conflicting classifications of pathogenicity | GCLC-related disorder, GCLC-related disorder |
| RS121907946 | Health Risk | Pathogenic | Gamma-glutamylcysteine synthetase deficiency, Gamma-glutamylcysteine synthetase deficiency |