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Chloride channel Kb

ClC-Kb, CLCNKB, ClC-K2, chloride channel ClC-Kb
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] (from NCBI)
Top mentioned proteins: Bart, HAD, ROMK, CAN, ClC-5
Papers on ClC-Kb
An Adult Case of Bartter Syndrome Type III Presenting with Proteinuria.
New
Park et al., Taejŏn, South Korea. In J Pathol Transl Med, Feb 2016
A genetic study of the patient and her parents revealed a mutation of the CLCNKB genes.
Mutations in SLC12A3 and CLCNKB and Their Correlation with Clinical Phenotype in Patients with Gitelman and Gitelman-like Syndrome.
New
Han et al., Seoul, South Korea. In J Korean Med Sci, Jan 2016
Mutation analysis of SLC12A3 and CLCNKB was performed.
Carboxyl-terminal Truncations of ClC-Kb Abolish Channel Activation by Barttin Via Modified Common Gating and Trafficking.
New
Fahlke et al., Jülich, Germany. In J Biol Chem, Jan 2016
Mutations in CLCNKB, the gene encoding the renal chloride channel hClC-Kb, cause Bartter syndrome type III, a human genetic condition characterized by polyuria, hypokalemia, and alkalosis.
Adult presentation of Bartter syndrome type IV with erythrocytosis.
New
Calado et al., São Paulo, Brazil. In Einstein (sao Paulo), Dec 2015
Bartter syndrome type IV, caused by loss-of-function mutations in barttin, a subunit of chloride channel CLC-Kb expressed in the kidney and inner ear, usually occurs in the antenatal-neonatal period.
Whole-Exome Sequencing Reveals CLCNKB Mutations in a Case of Sudden Unexpected Infant Death.
New
Chung et al., New York City, United States. In Pediatr Dev Pathol, Jul 2015
Through whole-exome sequencing, the infant was posthumously found to have 2 mutations in the CLCNKB gene, leading to a molecular diagnosis of Bartter syndrome type III, the likely cause of death.
ClC-K chloride channels: emerging pathophysiology of Bartter syndrome type 3.
Review
New
Teulon et al., Paris, France. In Am J Physiol Renal Physiol, Jul 2015
The mutations in the CLCNKB gene encoding the ClC-Kb chloride channel are responsible for Bartter syndrome type 3, one of the four variants of Bartter syndrome in the genetically based nomenclature.
Whole exome sequencing reveals CLCNKB mutations in a case of sudden unexpected infant death.
New
Cutz, In Pediatr Dev Pathol, Jul 2015
UNASSIGNED: This is letter to the Editor.
IGF-1 and insulin exert opposite actions on ClC-K2 activity in the cortical collecting ducts.
Pochynyuk et al., Houston, United States. In Am J Physiol Renal Physiol, 2015
The channel has characteristics attributable to the ClC-K2: slow gating kinetics, conductance ∼10 pS, voltage independence, Cl(-)>NO3 (-) anion selectivity, and inhibition/activation by low/high pH, respectively.
A novel mutation of CLCNKB in a Japanese patient of Gitelman-like phenotype with diuretic insensitivity to thiazide administration.
Matsunaga et al., Fukuoka, Japan. In Meta Gene, 2014
However, a novel missense mutation, p.L647F in CLCNKB, which is located in the CBS domain at the C-terminus of ClC-Kb, was discovered.
CLC channel function and dysfunction in health and disease.
Review
Fahlke et al., Jülich, Germany. In Front Physiol, 2013
There are four human CLC channels, ClC-1, ClC-2, ClC-Ka, and ClC-Kb, and five CLC transporters, ClC-3 through -7.
Cell biology and physiology of CLC chloride channels and transporters.
Review
Jentsch et al., Berlin, Germany. In Compr Physiol, 2012
ClC-Ka and ClC-Kb Cl(-) channels need barttin, whereas Ostm1 is required for the function of the lysosomal ClC-7 2Cl(-)/H(+)-exchanger.
Genetic basis of Bartter syndrome in Korea.
GeneRIF
Cheong et al., Seoul, South Korea. In Nephrol Dial Transplant, 2012
CLCNKB mutations are associated with Bartter syndrome.
Bartter syndrome in two sisters with a novel mutation of the CLCNKB gene, one with deafness.
GeneRIF
Pei et al., Montréal, Canada. In Eur J Pediatr, 2011
novel missense variant of the CLCNKB gene in two patients with type III Bartter syndrome
DNA analysis of renal electrolyte transporter genes among patients suffering from Bartter and Gitelman syndromes: summary of mutation screening.
GeneRIF
Ryšavá et al., Praha, Czech Republic. In Folia Biol (praha), 2010
four mutations in the CLCNKB gene, among patients suffering from bartter and Gitelman syndromes
Lack of association of variants of the renal salt reabsorption-related genes SLC12A3 and ClC-Kb and hypertension in Mongolian and Han populations in Inner Mongolia.
GeneRIF
Su et al., Beijing, China. In Genet Mol Res, 2010
there was no significant association between the SLC12A3 R904Q variant and the ClC-Kb-T481S variant and essential hypertension in Mongolian and Han populations in Inner Mongolia
A regulatory calcium-binding site at the subunit interface of CLC-K kidney chloride channels.
GeneRIF
Pusch et al., Genova, Italy. In J Gen Physiol, 2010
Identify a protein region that is involved in calcium binding and that is likely undergoing conformational changes underlying the complex gating of CLC-K channels.
An improved terminology and classification of Bartter-like syndromes.
Review
Seyberth, Marburg an der Lahn, Germany. In Nat Clin Pract Nephrol, 2008
These three subtypes can each be further subdivided according to the identity of the defective ion transporter or channel: the sodium-chloride cotransporter NCCT or the chloride channel ClC-Kb in distal convoluted tubule dysfunction; the sodium-potassium-chloride cotransporter NKCC2 or the renal outer medullary potassium channel in loop dysfunction; and the chloride channels ClC-Ka and ClC-Kb or their beta-subunit Barttin in combined distal convoluted tubule and loop dysfunction.
Gitelman syndrome.
Review
Levtchenko et al., Nijmegen, Netherlands. In Orphanet J Rare Dis, 2007
In a small minority of GS patients, mutations in the CLCNKB gene, encoding the chloride channel ClC-Kb have been identified.Diagnosis is based on the clinical symptoms and biochemical abnormalities (hypokalemia, metabolic alkalosis, hypomagnesemia and hypocalciuria).
Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion.
Impact
Jentsch et al., Hamburg, Germany. In Nature, 2001
Here we show that barttin acts as an essential beta-subunit for ClC-Ka and ClC-Kb chloride channels, with which it colocalizes in basolateral membranes of renal tubules and of potassium-secreting epithelia of the inner ear.
Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III.
Impact
Lifton et al., New Haven, United States. In Nat Genet, 1997
We now demonstrate linkage of this phenotype to a segment of chromosome 1 containing the gene encoding a renal chloride channel, CLCNKB.
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