CLCNKA Antibody

1. 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
2. R8W and G47R, two naturally occurring barttin mutations identified in patients with Bartter syndrome type IV, reduce barttin palmitoylation and CLC-K/barttin channel activity. PMID: 26013830
3. HEK293 cells the potentiating effect of niflumic acid (NFA) on CLC-Ka/barttin and CLC-Kb/barttin channels seems to be absent while the blocking efficacy of niflumic acid and benzofuran derivatives observed in oocytes is preserved PMID: 24863058
4. following variables were significantly associated with an estimated glomerular filtration rate: age, type 2 diabetes, total cholesterol, LDL-cholesterol, and the CLCNKA GG genotype PMID: 23850580
5. The variant CLCNKA risk allele, telegraphed by linked variants in the adjacent HSPB7 gene, uncovers a previously overlooked genetic mechanism affecting the cardio-renal axis. PMID: 21248228
6. 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. PMID: 20805576
7. Combined impairment of ClC-Ka and ClC-Kb results in phenotype that mimics neonatal Barrter's syndrome with deafness PMID: 15044642
8. Barttin modulates trafficking and function of ClC-K1 and ClC-Kb channels PMID: 16849430
9. CLCNKA genetic variants may have roles in salt-sensitive hypertension PMID: 17510212
10. The structure of the cytoplasmic domain of CLCNKA reveals a conserved interaction interface. PMID: 17562318
11. Disruption of the gene encoding Barttin, BSND, results in a 'double knockout' of the functions of both ClCKA and ClCKB, manifesting as Bartter syndrome type IV with sensorineural deafness and an especially severe salt-losing phenotype. PMID: 18094726
12. ClC-Ka and ClC-Kb differ in how conformational changes are translated to the extracellular domain, despite the fact that the cytoplasmic domains share the same quaternary structure PMID: 18648499

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HGNC: 2026

OMIM: 602024

KEGG: hsa:1187

STRING: 9606.ENSP00000332771

UniGene: Hs.591533