CLCNKB
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]
Full Name
Chloride Voltage-Gated Channel Kb
Function
Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport. May be important in urinary concentrating mechanisms.
Biological Process
Chloride transport Source: GO_Central
Excretion Source: ProtInc
Ion transmembrane transport Source: Reactome
Regulation of ion transmembrane transport Source: UniProtKB-KW
Cellular Location
Cell membrane
Involvement in disease
Bartter syndrome 3 (BARTS3):
A form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria.
Bartter syndrome 4B, neonatal, with sensorineural deafness (BARTS4B):
The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. Loss-of-function of both CLCNKA and CLCNKB results in the disease phenotype (PubMed:18310267). A digenic form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS4B is associated with sensorineural deafness.
Topology
Cytoplasmic: 1-50
Helical: 51-82
Helical: 91-111
Helical: 116-127
Helical: 141-160
Helical: 161-180
Helical: 203-224
Helical: 236-255
Helical: 282-310
Helical: 325-342
Helical: 349-360
Helical: 400-420
Helical: 421-440
Helical: 464-496
Helical: 500-520
Cytoplasmic: 521-687
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