Gene Symbol | CTNS |
Entrez Gene ID | 1497 |
Full Name | cystinosin, lysosomal cystine transporter |
Synonyms | CTNS-LSB,PQLC4 |
General protein information |
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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) |