This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome 1 (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and familial atrial fibrillation. This gene exhibits tissue-specific imprinting, with preferential expression from the maternal allele in some tissues, and biallelic expression in others. This gene is located in a region of chromosome 11 amongst other imprinted genes that are associated with Beckwith-Wiedemann syndrome (BWS), and itself has been shown to be disrupted by chromosomal rearrangements in patients with BWS. Alternatively spliced transcript variants have been found for this gene.
Pathway
Adrenergic signaling in cardiomyocytes; Cholinergic synapse; Gastric acid secretion; Neuronal System; Pancreatic secretion; Potassium Channels; Protein digestion and absorption; SIDS Susceptibility Pathways; TNF-alpha/NF-kB Signaling Pathway; Vibrio cholerae infection.
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