Kidney chloride channel B
Chloride channel B is located in the thick ascending loop of Henle. Functional defects in this ion channel result in classic Bartter syndrome.
Although exact data are not available, mutation in this gene are thought to occur 1 in 50,000-100,000 newborn.
None (2001) Inherited primary renal tubular hypokalemic alkalosis: a review of Gitelman and Bartter syndromes.
Bettinelli A et al. (2005) Simultaneous mutations in the CLCNKB and SLC12A3 genes in two siblings with phenotypic heterogeneity in classic Bartter syndrome.
Tajima T et al. (2006) Molecular analysis of the CLCNKB gene in Japanese patients with classic Bartter syndrome.
Orphanet ID 119467
Wikipedia EN (CLCNKB)
Update: Aug. 14, 2020