KCNE1 Antibody – Rabbit Polyclonal

The product of this gene belongs to the potassium channel KCNE family. Potassium ion channels are essential to many cellular functions and show a high degree of diversity, varying in their electrophysiologic and pharmacologic properties. This gene encodes a transmembrane protein known to associate with the product of the KVLQT1 gene to form the delayed rectifier potassium channel. Mutation in this gene are associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long-QT syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]

KCNE1: Ancillary protein that assembles as a beta subunit with a voltage-gated potassium channel complex of pore-forming alpha subunits. Modulates the gating kinetics and enhances stability of the channel complex. Assembled with KCNQ1/KVLQT1 is proposed to form the slowly activating delayed rectifier cardiac potassium (IKs) channel. The outward current reaches its steady state only after 50 seconds. Assembled with KCNH2/HERG may modulate the rapidly activating component of the delayed rectifying potassium current in heart (IKr). Associates with KCNQ1/KVLQT1 and KCNH2/HERG. Expressed in heart, lung, kidney, testis, ovaries, small intestine, peripheral blood leukocytes. Not detected in pancreas, spleen, prostate and colon. Restrictively localized in the apical membrane portion of epithelial cells. Belongs to the potassium channel KCNE family.

Protein type: Membrane protein, integral; Channel, potassium

Chromosomal Location of Human Ortholog: 21q22.12

Cellular Component: voltage-gated potassium channel complex; cell surface; lysosome; apical plasma membrane; plasma membrane; Z disc

Molecular Function: voltage-gated potassium channel activity; protein binding; potassium channel regulator activity; telethonin binding; delayed rectifier potassium channel activity

Biological Process: protein amino acid O-linked glycosylation; sensory perception of sound; protein amino acid N-linked glycosylation

Disease: Jervell And Lange-nielsen Syndrome 2; Long Qt Syndrome 5