cystinosin, lysosomal cystine transporter

ENTREZID: 1497 | Type: NA | Map: 17p13.2

OMIM: 300335

Summary Entrez
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]