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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.
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Protein Aliases: Cystinosin; cystinosis nephropathic; cystinosis, nephropathic
Gene Aliases: AI195360; AW049661; CTNS; CTNS-LSB; PQLC4
UniProt ID: (Human) O60931, (Mouse) P57757
Entrez Gene ID: (Human) 1497, (Mouse) 83429, (Rat) 287478
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