CTNS( Human )

Entrez Gene 1497 Entrez Gene 1497
cystinosin, lysosomal cystine transporter

Alias

CTNS-LSB|PQLC4

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].

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