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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for CTNS (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID1497
Official gene symbolCTNS
Full namecystinosis, nephropathic
Aliases,CTNS-LSB,PQLC4,
Gene summaryThis 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. [provided by RefSeq]
LocationChromosome: 17   Locus: 17p13
Gene position3539762 - 3566397  Map Viewer
Gene orientationplus
Gene size26636 bp
Gene sequence
OMIM ID606272