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CTNS

Official Full Name
cystinosin, lysosomal cystine transporter
Organism
Homo sapiens
GeneID
1497
Background
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]
Synonyms
PQLC4; SLC66A4; CTNS-LSB;

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