Kir2.1

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Kir2.1

Kir2.1 (pronounced: "keer two point one"), also known as Inward rectifier potassium channel 2.1, is a protein that in humans is encoded by the KCNJ2 gene.

Etymology

The name Kir2.1 is derived from the term "inward-rectifier potassium ion channels" which are abbreviated as Kir. The "2.1" refers to the specific subtype of this protein.

Function

Kir2.1 is a type of potassium channel that allows potassium ions to pass through the cell membrane in a way that is selective and dependent on the electrochemical gradient. This process is crucial for maintaining the resting membrane potential of cells, and it also plays a role in the repolarization phase of the cardiac action potential.

Clinical significance

Mutations in the KCNJ2 gene that encodes Kir2.1 can lead to various medical conditions. These include Andersen-Tawil syndrome, a rare genetic disorder characterized by periodic paralysis, cardiac arrhythmias, and distinctive facial and skeletal features. Another condition associated with Kir2.1 is Catecholaminergic polymorphic ventricular tachycardia (CPVT), a condition that can cause a rapid, irregular heart rhythm in response to physical activity or emotional stress.

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