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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References in periodicals archive ?
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.
A founder mutation in the CLCNKB gene causes Bartter syndrome type III in Spain.
Molecular analysis of the CLCNKB gene in Japanese patients with classic Bartter syndrome.
Esta variante del sindrome de Bartter es causada por mutaciones en el gen CLCNKB, que expresa el canal de cloro CLC-Kb localizado en la membrana baso lateral del asa gruesa de Henle y tubulo distal.