Entrez gene ID | | 1184 |
Official gene symbol | | CLCN5 |
Full name | | chloride channel 5 |
Aliases | | ,CLC5,CLCK2,DENTS,NPHL1,NPHL2,XLRH,XRN,hCIC-K2,hClC-K2, |
Gene summary | | This gene encodes a member of the ClC family of chloride ion channels and ion transporters. Mutations in this gene have been found in Dent disease and renal tubular disorders complicated by nephrolithiasis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] |
Location | | Chromosome: X Locus: Xp11.23-p11.22 |
Gene position | | 49687225 - 49863892 Map Viewer |
Gene orientation | | plus |
Gene size | | 176668 bp |
Gene sequence |
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OMIM ID | | 300008 |
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