Kcnj2
KCNJ2 (pronounced as "kay-see-en-jay-two") is a gene that provides instructions for making a protein called an inward rectifying potassium channel. This protein plays a crucial role in maintaining the normal function of the heart.
Etymology
The term "KCNJ2" is an abbreviation for Potassium Voltage-Gated Channel Subfamily J Member 2. The name is derived from its function and classification in the human genome.
Function
The protein produced by the KCNJ2 gene forms a channel that transports positively charged atoms (ions) of potassium into cells. This particular type of channel is known as an inward rectifying potassium channel because it allows more potassium to enter the cell than to leave it. The activity of this channel is critical for maintaining the normal function of cardiac muscle cells, which control the heart's rhythm.
Related Terms
- Gene: The basic physical and functional unit of heredity. Genes are made up of DNA.
- Protein: Large, complex molecules that play many critical roles in the body.
- Potassium: A type of electrolyte that is critical for the normal functioning of the cells, nerves, heart, and muscles.
- Cardiac muscle: A type of muscle tissue that is found only in the heart and is responsible for pumping blood throughout the body.
Associated Conditions
Mutations in the KCNJ2 gene can lead to a variety of heart conditions, including Andersen-Tawil syndrome and Catecholaminergic polymorphic ventricular tachycardia, both of which can cause life-threatening heart rhythms.
See Also
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