| Entrez gene ID | | 1497 |
| Official gene symbol | | CTNS |
| Full name | | cystinosis, nephropathic |
| Aliases | | ,CTNS-LSB,PQLC4, |
| Gene 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] |
| Location | | Chromosome: 17 Locus: 17p13 |
| Gene position | | 3539762 - 3566397 Map Viewer |
| Gene orientation | | plus |
| Gene size | | 26636 bp |
| Gene sequence |
| |
| OMIM ID | | 606272 |
|