Aliases for CTNS Gene
External Ids for CTNS Gene
Previous GeneCards Identifiers 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, Nephropathic and Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Lysosome. Gene Ontology (GO) annotations related to this gene include L-cystine transmembrane transporter activity.
UniProtKB/Swiss-Prot Summary 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.