Kir2.1
(Redirected from KCNJ2)
Kir2.1 is a protein that in humans is encoded by the KCNJ2 gene. It is a member of the inward-rectifier potassium channel family and is predominantly expressed in the heart and neurons.
Function
Kir2.1 is a strong inward rectifier K+ channel. The inward rectification is mainly due to the blockage of outward current by internal Mg2+ and polyamines. This channel is a major contributor to the native inward rectifying K+ current in heart and neurons.
Clinical significance
Mutations in the KCNJ2 gene are associated with Andersen-Tawil syndrome, a rare disorder that affects the heart, facial features, and muscle movement. This condition is characterized by a triad of distinctive features: periodic paralysis, heart rhythm abnormalities (arrhythmias), and developmental abnormalities.
See also
References
External links
- KCNJ2 at the US National Library of Medicine Medical Subject Headings (MeSH)
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Contributors: Prab R. Tumpati, MD
