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Immunogen sequence: FPQAYMNFYYK STEGWSIGNV LLDFTGGSFS LLQMFLQSYN NDQWTLIFGD PTKF
Highest antigen sequence identity to the following orthologs - mouse 96%, rat 96%.
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Cystinosin; cystinosis nephropathic
基因别名: CTNS; CTNS-LSB; PQLC4
UniProt ID: (Human) O60931
Entrez Gene ID: (Human) 1497