Recombinant Human Chloride channel protein ClC-Kb (CLCNKB), partial

1. Taking advantage of the largest number of functional results of CLCNKB mutations, we reveal the functionally important domains and severe mutational spots of the hClC-Kb channel and establish the genotype-phenotype association in classic Bartter's Syndrome. PMID: 28555925
2. Five patients had 1 or more mutations in CLCNKB, of whom 3 had homozygous mutations and 2 had single heterozygous mutations and only in CLCNKB had hypocalciuria. PMID: 26770037
3. Single loci of tag Single Nucleotide Polymorphisms of CLCNKA_B are not enough to increase the Essential Hypertension susceptibility, the combination of CLCNKA SNP, salt, marine products, meat, edible oil consumption is associated with elevated risk PMID: 25919862
4. results demonstrate that the carboxyl terminus of hClC-Kb is not part of the binding site for barttin, but functionally modifies the interplay with barttin. PMID: 26453302
5. These results demonstrate that mutations in a cluster of hydrophobic residues within transmembrane domain 1 affect barttin-CLC-K interaction and impair gating modification by the accessory subunit PMID: 26063802
6. we report here for the first time that ClC-Kb disease-causing mutations located around the selectivity filter can result in both reduced surface expression and hyperactivity in heterologous expression systems PMID: 24271511
7. Case Report: 2 mutations in the CLCNKB gene, leading to a molecular diagnosis of Bartter syndrome type III in case of sudden infant death. PMID: 25923035
8. study investigated the functional consequences of seven mutations; four mutants carried no current whereas others displayed a 30-60 percent reduction in conductance as compared with wild-type ClC-Kb PMID: 23703872
9. expands the association between CLCNKB and essential hypertension to a non-European ancestry population PMID: 22578033
10. This article presents the case of a patient with hypokalaemia caused by CLCNKB gene mutation hard to categorise as GS or BS type 3. PMID: 23345488
11. CLCNKB mutations are associated with Bartter syndrome. PMID: 21865213
12. novel missense variant of the CLCNKB gene in two patients with type III Bartter syndrome PMID: 21479528
13. 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 PMID: 21644212
14. four mutations in the CLCNKB gene, among patients suffering from bartter and Gitelman syndromes PMID: 21631963
15. Three novel CLCNKB mutations are identified associated with classic Bartter syndrome with a role in altering the functional properties of ClC-Kb channels. PMID: 19807735
16. DNA mutational analysis of CLCNKB in Bartter syndrome type 3. PMID: 11865110
17. presence of Gitelman and Bartter syndrome and CBS phenotypes, in a kindred with the CLCNKB R438H mutation. PMID: 12472765
18. CLCKB expression is demonstrated in stria vascularis, spiral ligament and limbal fibrocytes, interdental cells and satellite cells of spiral ganglion neurons of mice harboring enhanced green fluorescence protein gene driven by the human CLCKB promoter. PMID: 14502078
19. Genetic heterogeneity of ClC-Kb chloride channels correlates with functional heterogeneity, which assigns ClC-Kb to a set of genes potentially relevant for polygenic salt-sensitivity of blood pressure regulation. PMID: 14675050
20. The mutation ClC-Kb(T481S) of the renal epithelial Cl- channel ClC-Kb strongly activates ClC-Kb chloride channel function in vitro and may predispose to the development of essential hypertension in vivo. PMID: 15148291
21. There is no association with hypertension of CLCNKB polymorphism at a hypertension locus on chromosome 1p36. PMID: 16003175
22. confirms a weak genotype-phenotype correlation in patients with CLCNKB mutations and supports the founder effect of the A204T mutation in Spain PMID: 16391491
23. Identification of a novel mutation of the CLCNKB gene, DeltaL130 associated with Bartter syndrome. PMID: 16902263
24. Results identify large heterozygous deletion mutations in the CLCNKB gene in patients with type III Bartter syndrome. PMID: 17622951
25. roles of Thr418Ser polymorphism of the CLCNKB gene and Arg904Gln polymorphism in the TSC gene on essential hypertension need to be explored in other ethnic groups PMID: 17997379
26. In a large cohort of ante/neonatal Bartter syndrome, deafness, transient hyperkalaemia and severe hypokalaemic hypochloraemic alkalosis orientate molecular investigations to BSND, KCNJ1 and CLCNKB genes, respectively. PMID: 19096086
27. Threonine change to serine at position 481 in CLCNKB is associated with essential hypertension in males within the Ghanaian population. PMID: 19226700

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HGNC: 2027

OMIM: 602023

KEGG: hsa:1188

STRING: 9606.ENSP00000364831

UniGene: Hs.352243