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 ?
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.
Bartter tipo 3: tambien se lo conoce como sindrome de Bartter clasico y se observa principalmente en la infancia; (2,6) la mutacion responsable se ubica en el gen que codifica para el canal de cloro CLC-Kb (CLCNKB), situado en el cromosoma 1p36; (2,6,22) se han descrito al menos 26 mutaciones diferentes, con una alta variabilidad fenotipica, por lo que puede, incluso, simular el sindrome de Bartter neonatal o el sindrome de Gitelman con hipocalciuria e hipomagnesemia.
Recientemente se informo de un paciente con sindrome de Bartter neonatal y sordera neurosensorial (Bartter tipo 3) que no presentaba ninguna mutacion en el gen que codifica para la proteina Barttin, pero si tenia mutaciones heterocigotas en los genes CLCNKA y CLCNKB; la perdida de la funcion de los alelos de ambos canales genera un fenotipo grave del sindrome de Bartter con sordera neurosensorial muy similar a lo que pasa en la interaccion de la proteina Barttin con ambos canales CLCNK.
A founder mutation in the CLCNKB gene causes Bartter syndrome type III in Spain.
Patients with biallelic mutations in the chloride channel gene CLCNKB: long-term management and outcome.
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.