KCNJ6
KCNJ6 (Potassium Inwardly-Rectifying Channel, Subfamily J, Member 6), also known as GIRK2, is a protein that in humans is encoded by the KCNJ6 gene. It is a member of the G-protein-activated inwardly rectifying potassium (GIRK) channel family.
Function[edit | edit source]
KCNJ6 is a member of the G-protein-gated inwardly rectifying potassium (GIRK) channel family. These channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their primary role is to regulate the action potentials in neurons and cardiac cells, and they are activated by G-protein-coupled receptors (GPCRs) that respond to various external stimuli.
Structure[edit | edit source]
The KCNJ6 protein is a tetramer, with each subunit containing two transmembrane domains, an intracellular carboxyl terminus, and an extracellular amino terminus. The transmembrane domains form the potassium channel, while the intracellular terminus contains sites for phosphorylation and for binding of intracellular proteins.
Clinical Significance[edit | edit source]
Mutations in the KCNJ6 gene have been associated with several neurological disorders, including Andersen-Tawil syndrome, Keppen-Lubinsky syndrome, and Autism spectrum disorder.
See Also[edit | edit source]
- Potassium channel
- G-protein-coupled receptor
- Andersen-Tawil syndrome
- Keppen-Lubinsky syndrome
- Autism spectrum disorder
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD