| Gene Symbol | CTNS |
| Entrez Gene ID | 1497 |
| Full Name | cystinosin, lysosomal cystine transporter |
| Synonyms | CTNS-LSB,PQLC4 |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| Summary | This gene encodes a seven-transmembrane domain protein that functions to transport cystine out of lysosomes. Its activity is driven by the H+ electrochemical gradient of the lysosomal membrane. Mutations in this gene cause cystinosis, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]. |
| Disorder MIM: | |
| Disorder Html: | Cystinosis, nephropathic, 219800 (3); Cystinosis, ocular nonnephropathic, 219750 (3); Cystinosis, late-onset juvenile or adolescent nephropathic, 219900 (3); Cystinosis, atypical nephropathic, 219800 (3) |









































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