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FIGURE: 1 / 2
Sequence of this protein is as follows: MIRNWLTIFI LFPLKLVEKC ESSVSLTVPP VVKLENGSST NVSLTLRPPL NATLVITFEI TFRSKNITIL ELPDEVVVPP GVTNSSFQVT SQNVGQLTVY LHGNHSNQTG PRIRFLVIRS SAISIINQVI GWIYFVAWSI SFYPQVIMNW RRKSVIGLSF DFVALNLTGF VAYSVFNIGL LWVPYIKEQF LLKYPNGVNP VNSNDVFFSL HAVVLTLIII VQCCLYERGG QRVSWPAIGF LVLAWLFAFV TMIVAAVGVI TWLQFLFCFS YIKLAVTLVK YFPQAYMNFY YKSTEGWSIG NVLLDFTGGS FSLLQMFLQS YNNDQWTLIF GDPTKFGLGV FSIVFDVVFF IQHFCLYRKR PGLQAARTGS GSRLRQDWAP SLQPKALPQT TSVSASSLKG
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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