Aliases for CLCNKA Gene
External Ids for CLCNKA Gene
Previous GeneCards Identifiers for CLCNKA Gene
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. [provided by RefSeq, Jul 2008]
GeneCards Summary for CLCNKA Gene
CLCNKA (Chloride Voltage-Gated Channel Ka) is a Protein Coding gene. Diseases associated with CLCNKA include Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness and Infantile Bartter Syndrome With Sensorineural Deafness. Among its related pathways are Activation of cAMP-Dependent PKA and Diuretics Pathway, Pharmacodynamics. Gene Ontology (GO) annotations related to this gene include ion channel activity and voltage-gated chloride channel activity. An important paralog of this gene is CLCNKB.
UniProtKB/Swiss-Prot for CLCNKA Gene
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.