Chloride channel protein ClC-Ka

Anion-selective channel permeable to small monovalent anions with ion selectivity for chloride > bromide > nitrate > iodide (PubMed:11734858, PubMed:12111250). Forms a homodimeric channel where each subunit has its own ion conduction pathway. May conduct double-barreled currents controlled by two types of gates, two fast gates that control each subunit independently and a slow common gate that opens and shuts off both subunits simultaneously (PubMed:11734858, PubMed:12111250, PubMed:18310267, PubMed:18776122, PubMed:19646679, PubMed:20538786). Assembles with the regulatory subunit BSND/Barttin for sorting at the basolateral plasma membrane domain and functional switch to the ion conducting state. CLCNKA:BSND channels display mostly a linear current-voltage relationship with fast gating at negative potentials (PubMed:11734858, PubMed:12111250, PubMed:18310267, PubMed:18776122, PubMed:20538786). Mediates transepithelial chloride transport from the lumen to interstitial compartment along the thin ascending limb of Henle's loop, contributing to generation of hypertonic medullary interstitium as a countercurrent system to achieve urine concentration (By similarity) (PubMed:15044642). Conducts chloride currents in the stria vascularis of the inner ear to establish the endocochlear potential necessary for normal hearing (PubMed:15044642, PubMed:18310267, PubMed:19646679).

Bartter syndrome 4B, neonatal, with sensorineural deafness

BARTS4B

A digenic form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS4B is associated with sensorineural deafness.

None

The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. Loss-of-function of both CLCNKA and CLCNKB results in the disease phenotype (PubMed:18310267).

Belongs to the chloride channel (TC 2.A.49) family. CLCNKA subfamily.

• Basolateral cell membrane
• Multi-pass membrane protein

Chloride channel protein ClC-Ka, Chloride channel Ka, ClC-K1, CLCNKA

• entrezGene:1187
• omim:602024
• swissprot:P51800

Proteins

Neuroscience

75285Da