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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.
AI195360; AW049661; CTNS; CTNS-LSB; Cystinosin; cystinosin, lysosomal cystine transporter; cystinosis nephropathic; cystinosis, nephropathic; PQLC4
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100 µg
100 µg
100 µL
100 µL
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