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Immunogen sequence: PDEVVVPPGV TNSSFQVTSQ NVGQLTVYLH GNHSNQTGPR IRFLVIRSSA
Antigen sequence identity: Mouse 76%; Rat 76%
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Cystinosin; cystinosis nephropathic
Gene Aliases: CTNS; CTNS-LSB; PQLC4
UniProt ID: (Human) O60931
Entrez Gene ID: (Human) 1497
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