| Entrez Gene ID | 1491 |
|---|---|
| Official Gene Symbol | CTH (GeneCards) |
| Full name | cystathionine gamma-lyase |
| Location | 1p31.1 |
| Other ids | Vega : OTTHUMG00000009352 MIM : 607657 HGNC : HGNC:2501 Ensembl : ENSG00000116761 |
| Other names | None |
| Summary | 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] |
Found 4 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 1596 | 1491 | CTH | 1 | 70966469 | 70966469 | Asymptomatic | HiSeq X Ten |
| 1762 | 1491 | CTH | 1 | 71037808 | 71037808 | Asymptomatic | HiSeq X Ten |
| 2621 | 1491 | CTH | 1 | 71008705 | 71008705 | Cockayne syndrome | HiSeq X Ten |
| 22409 | 1491 | CTH | 1 | 70939090 | 70939090 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |