KVLQT1 Antibody – Rabbit Polyclonal

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. [provided by RefSeq, Aug 2011]

Kv7.1: a voltage-gated potassium channel protein required for the repolarization phase of the cardiac action potential. Associates with KCNE1 (MinK) to form the I(Ks) cardiac potassium current. Elicits a rapidly activating, potassium-selective outward current. May associate also with KCNE3 (MiRP2) to form the potassium channel that is important for cyclic AMP-stimulated intestinal secretion of chloride ions, which is reduced in cystic fibrosis and pathologically stimulated in cholera and other forms of secretory diarrhea. Abundantly expressed in heart, pancreas, prostate, kidney, small intestine and peripheral blood leukocytes. Less abundant in placenta, lung, spleen, colon, thymus, testis and ovaries. Three alternatively spliced isoforms have been described.

Protein type: Channel, potassium; Membrane protein, multi-pass; Membrane protein, integral

Chromosomal Location of Human Ortholog: 11p15.5

Cellular Component: voltage-gated potassium channel complex; cytoplasmic vesicle membrane; lysosome; basolateral plasma membrane; early endosome; late endosome; plasma membrane

Molecular Function: calmodulin binding; protein binding; voltage-gated potassium channel activity; delayed rectifier potassium channel activity; protein phosphatase 1 binding

Biological Process: synaptic transmission; genetic imprinting; sensory perception of sound; positive regulation of heart rate; gene silencing; regulation of heart contraction; cardiac muscle contraction

Disease: Jervell And Lange-nielsen Syndrome 1; Beckwith-wiedemann Syndrome; Atrial Fibrillation, Familial, 3; Short Qt Syndrome 2; Long Qt Syndrome 1