CTH Chromosome 1
Cystathionine gamma-lyase
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What This Gene Does
This gene encodes a cytoplasmic enzyme in the trans-sulfuration pathway that converts cystathione derived from methionine into cysteine. Glutathione synthesis in the liver is dependent upon the availability of cysteine. Mutations in this gene cause cystathioninuria. Alternative splicing of this gene results in three transcript variants encoding different isoforms. [provided by RefSeq, Jun 2010]
Associated Conditions (2)
Cystathioninuria
CTH-related disorder
Key Variants
RS186217898
Conflicting classifications of pathogenicity
Cystathioninuria, CTH-related disorder, Cystathioninuria
Health Risk
RS28941785
Conflicting classifications of pathogenicity
Cystathioninuria, CTH-related disorder, Cystathioninuria
Health Risk
RS368097625
Conflicting classifications of pathogenicity
Cystathioninuria, CTH-related disorder, Cystathioninuria
Health Risk
RS773107808
Likely pathogenic
Cystathioninuria, Cystathioninuria
Health Risk
RS28941786
Pathogenic
Cystathioninuria, Cystathioninuria
Health Risk
RS748374528
Pathogenic
Cystathioninuria, Cystathioninuria
Health Risk
RS746818113
Pathogenic/Likely pathogenic
Cystathioninuria, Cystathioninuria
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS186217898 | Health Risk | Conflicting classifications of pathogenicity | Cystathioninuria, CTH-related disorder, Cystathioninuria |
| RS28941785 | Health Risk | Conflicting classifications of pathogenicity | Cystathioninuria, CTH-related disorder, Cystathioninuria |
| RS368097625 | Health Risk | Conflicting classifications of pathogenicity | Cystathioninuria, CTH-related disorder, Cystathioninuria |
| RS773107808 | Health Risk | Likely pathogenic | Cystathioninuria, Cystathioninuria |
| RS28941786 | Health Risk | Pathogenic | Cystathioninuria, Cystathioninuria |
| RS748374528 | Health Risk | Pathogenic | Cystathioninuria, Cystathioninuria |
| RS746818113 | Health Risk | Pathogenic/Likely pathogenic | Cystathioninuria, Cystathioninuria |