Recombinant Human Chloride channel protein ClC-Ka (CLCNKA), Truncated

Uniprot Id

P51800

Target Species

Human

Target Name

CLCNKA

Target Full Name

Chloride channel protein ClC-Ka

Target Function

Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport. May be important in urinary concentrating mechanisms.

Target Involvement

Bartter syndrome 4B, neonatal, with sensorineural deafness (BARTS4B)

Target Subcellular Location

Membrane; Multi-pass membrane protein.

Target Protein Families

Chloride channel (TC 2.A.49) family, CLCNKA subfamily

Target Tissue Specificity

Expressed predominantly in the kidney. All nephron segments expressing BSND also express CLCNK proteins.

Target Synonyms

CLCNKAChloride channel protein ClC-Ka; Chloride channel Ka; ClC-K1

Target Background

This gene is a member of the CLC family of voltage-gated chloride channels. The encoded protein is predicted to have 12 transmembrane domains, and requires a beta subunit called barttin to form a functional channel. It is thought to function in salt reabsorption in the kidney and potassium recycling in the inner ear. The gene is highly similar to CLCNKB, which is located 10 kb downstream from this gene. Multiple transcript variants encoding different isoforms have been found for this gene.