Aliases for CTNS Gene
External Ids for CTNS Gene
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]
GeneCards Summary for CTNS Gene
CTNS (Cystinosin, Lysosomal Cystine Transporter) is a Protein Coding gene. Diseases associated with CTNS include cystinosis, late-onset juvenile or adolescent nephropathic and cystinosis, nephropathic. Among its related pathways are Lysosome. GO annotations related to this gene include L-cystine transmembrane transporter activity.
UniProtKB/Swiss-Prot for CTNS Gene
Cystine/H(+) symporter thought to transport cystine out of lysosomes. Plays an important role in melanin synthesis, possibly by preventing melanosome acidification and subsequent degradation of tyrosinase TYR.