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CLCNKB chloride voltage-gated channel Kb

Also known as: CLCKB; ClC-K2; ClC-Kb

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, Sep 2009]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Bartter syndrome type 3
MedGen: C1846343OMIM: 607364GeneReviews: Not available
See labs
Bartter syndrome, type 4b
MedGen: C2751312OMIM: 613090GeneReviews: Not available
See labs

Genomic context

Location:
1p36.13
Sequence:
Chromosome: 1; NC_000001.11 (16043736..16057326)
Total number of exons:
20

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