KCNE1 Polyclonal Antibody

disease:Defects in KCNE1 are the cause of Jervell and Lange-Nielsen syndrome type 2 (JLNS2) [MIM:612347]. JLNS2 is an autosomal recessive disorder characterized by congenital deafness, prolongation of the QT interval, syncopal attacks due to ventricular arrhythmias, and a high risk of sudden death.,disease:Defects in KCNE1 are the cause of long QT syndrome type 5 (LQT5) [MIM:176261]. Long QT syndromes are heart disorders characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress. KCNE1 mutants form channels that open slowly and close rapidly, thereby diminishing potassium currents.,function: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.,function: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).,online information:Congenital long QT syndrome website,online information:KCNE1 mutations page,PTM:Phosphorylation inhibits the potassium current.,sequence caution:Translated as Cys.,similarity:Belongs to the potassium channel KCNE family.,subunit:Associates with KCNQ1/KVLQT1 and KCNH2/HERG.,tissue specificity: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.,