Official Full Name
cystinosin, lysosomal cystine transporter
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.
CTNS; cystinosin, lysosomal cystine transporter; cystinosis, nephropathic; cystinosin; CTNS LSB; PQLC4; CTNS-LSB; zgc:110194