KCNJ2 Gene
KCNJ2 belongs to a large family of genes that provide instructions for making potassium channels. These channels, which transport positively charged potassium ions out of cells, play key roles in a cell’s ability to generate and transmit electrical signals. Channels made with the KCNJ2 protein are active in skeletal and cardiac muscles. Mutations of the KCNJ2 gene are a major underlying cause of Andersen–Tawil syndrome (ATS), a rare autosomal dominant inherited disorder that is characterized by periodic paralysis, cardiac arrhythmias, and developmental dysmorphic features. Two causative missense mutations, R218Q (c.653G > A) and M307I (c.921G > A) lead to ATS.
