CLCNKB

CLCNKB

A gene on chromosome 1p36 that encodes a member of the voltage-gated chloride channel and ion transporters. The CLCNKB protein product is thought to play a role in renal salt reabsorption.

Molecular pathology
CLCNKB mutations are linked to autosomal recessive Bartter syndrome type 3 (BS3).
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A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes.
Pathologicaly the primary defect is impairment in one of the transporters involved in sodium chloride reabsorption in the thick ascending limb of loop of Henle or distal convoluted tubule viz, Na-K-2Cl cotransporter (NKCC2) or apical K channel (ROMK) or basolateral chloride channel (ClCNKB).6 Defect in these channels leads to impaired absorption of Na+, K+, Cl- and calcium in thick ascending loop of Henle.
Classic BS is caused by mutations in CLCNKB (chloride channel, voltage-sensitive Kb).
[5] SLC12A3, solute carrier family 12 (sodium/chloride transporter), member 3; CLCNKB, chloride channel, voltage-sensitive Kb; SLC12A2, solute carrier family 12 (sodium/potassium/chloride transporter), member 2; KCNJ1, potassium channel, inwardly rectifying subfamily J, member 1; CLCNKB, chloride channel, voltage-sensitive Kb; BSND, barttin CLCNK-type chloride channel accessory } subunit; CASR, calcium-sensing receptor.