| ncRNA Symbol: | CTNS | | Full Name: | cystinosin, lysosomal cystine transporter | | Category: | mRNA | | Synonyms: | CTNS-LSB|PQLC4|SLC66A4 | | Chromosome: | chr17 | | Strand: | + | | Coordinate: | | Start Site(bp): | 3636468 | End Site(bp): | 3661542 | | | Gene Summary: | 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. [provided by RefSeq, Jul 2009] | | External Links: | |
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