KCNK5

KCNK5 is a gene that encodes a member of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has a greater selectivity for potassium over sodium and can be inhibited by certain types of halothane. The protein is expressed in the epithelial tissue, particularly in the kidneys and the gastrointestinal tract.

Function

The KCNK5 gene, also known as TASK-2, encodes a protein that is a member of the two-pore-domain potassium channel family. These proteins form ion channels that allow potassium ions to pass through the cell membrane, which is crucial for maintaining the resting membrane potential and the shaping of action potentials. The activity of this protein is sensitive to changes in pH.

Clinical Significance

Mutations in the KCNK5 gene have been associated with certain medical conditions. For example, a mutation in this gene has been linked to Birk-Barel syndrome, a rare genetic disorder characterized by mental retardation, hypotonia, hyperactivity, and distinctive facial features.

Research

Research on the KCNK5 gene and its encoded protein is ongoing, with studies focusing on its role in various physiological and pathological processes, including cell volume regulation, acid-base homeostasis, and the development of certain types of cancer.

See Also

• Potassium channel
• Birk-Barel syndrome
• Ion channel