| UniProt Protein Function: | CLCNKB: 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. Defects in CLCNKB are the cause of Bartter syndrome type 3 (BS3); also known as classic Bartter syndrome. It is an autosomal recessive form of often severe intravascular volume depletion due to renal salt-wasting associated with low blood pressure, hypokalemic alkalosis, hypercalciuria, and normal serum magnesium levels. Defects in CLCNKB are a cause of Bartter syndrome type 4B (BS4B). A digenic, 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 type 4B is associated with sensorineural deafness. Belongs to the chloride channel (TC 2.A.49) family. CLCNKB subfamily.Protein type: Membrane protein, multi-pass; Transporter, ion channel; Membrane protein, integral; TransporterChromosomal Location of Human Ortholog: 1p36Cellular Component: integral to plasma membrane; plasma membraneMolecular Function: voltage-gated chloride channel activityBiological Process: excretion; transportDisease: Bartter Syndrome, Type 3; Bartter Syndrome, Type 4b |
| UniProt Protein Details: | |
| NCBI 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] |
| UniProt Code: | P51801 |
| NCBI GenInfo Identifier: | 288558843 |
| NCBI Gene ID: | 1188 |
| NCBI Accession: | P51801.3 |
| UniProt Secondary Accession: | P51801,Q5T5Q7, Q5T5Q8, B3KUY3 |
| UniProt Related Accession: | P51801 |
| Molecular Weight: | 56,998 Da |
| NCBI Full Name: | Chloride channel protein ClC-Kb |
| NCBI Synonym Full Names: | chloride voltage-gated channel Kb |
| NCBI Official Symbol: | CLCNKBÂ Â |
| NCBI Official Synonym Symbols: | CLCKB; ClC-K2; ClC-Kb  |
| NCBI Protein Information: | chloride channel protein ClC-Kb |
| UniProt Protein Name: | Chloride channel protein ClC-Kb |
| UniProt Synonym Protein Names: | ClC-K2 |
| Protein Family: | Chloride channel protein |
| UniProt Gene Name: | CLCNKBÂ Â |
| UniProt Entry Name: | CLCKB_HUMAN |
