KCNK3

KCNK3, also known as potassium channel subfamily K member 3, is a gene located on chromosome 17q23.3. It encodes a protein that functions as a potassium channel, specifically a two-pore domain potassium channel. This protein is involved in the regulation of cellular excitability and is expressed in various tissues, including the brain, heart, and skeletal muscle.

Mutations in the KCNK3 gene have been associated with several genetic disorders. One of the most well-known is Andersen-Tawil syndrome, a rare genetic disorder characterized by intellectual disability, seizures, and distinctive facial features. Other disorders linked to KCNK3 mutations include familial hemiplegic migraine type 1 and familial hemiplegic migraine type 2.

The KCNK3 protein is a tetramer, consisting of four subunits. Each subunit contains a pore-forming domain and a regulatory domain. The pore-forming domain is responsible for the selective permeability of the channel to potassium ions, while the regulatory domain modulates the channel's activity. The KCNK3 channel is activated by intracellular acidification and is inhibited by intracellular alkalization.

Research on KCNK3 is ongoing, with studies focusing on its role in various physiological processes and its potential as a therapeutic target for neurological disorders. Understanding the molecular mechanisms underlying KCNK3 function and its involvement in genetic disorders is crucial for developing effective treatments and interventions.