Entrez gene ID | | 1188 |
Official gene symbol | | CLCNKB |
Full name | | chloride channel Kb |
Aliases | | ,CLCKB,ClC-K2,ClC-Kb,MGC24087,hClC-Kb, |
Gene summary | | The protein encoded by this gene is a member of the family of voltage-gated chloride channels. Chloride channels have several functions, including the regulation of cell volume, membrane potential stabilization, signal transduction and transepithelial transport. This gene is expressed predominantly in the kidney and may be important for renal salt reabsorption. Mutations in this gene are associated with autosomal recessive Bartter syndrome type 3 (BS3). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] |
Location | | Chromosome: 1 Locus: 1p36 |
Gene position | | 16370247 - 16383803 Map Viewer |
Gene orientation | | plus |
Gene size | | 13557 bp |
Gene sequence |
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OMIM ID | | 602023 |
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