Kvlqt1 (KCNQ1) Antibody – Rabbit Polyclonal

This gene encodes a voltage-gated potassium channel required for the repolarization phase of the cardiac action potential. The gene product can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome and familial atrial fibrillation. The gene is located in a region of chromosome 11 that contains a number of contiguous genes, which are abnormally imprinted in cancer and the Beckwith-Wiedemann syndrome. This gene is also imprinted, with preferential expression from the maternal allele in some tissues, excluding cardiac muscle. Alternatively spliced transcripts encoding distinct isoforms have been described. [provided by RefSeq]

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

Chromosomal Location of Human Ortholog: 11p15.5

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

Molecular Function: calmodulin binding; voltage-gated potassium channel activity; protein binding; 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