Western blot analysis of KCNE1 over-expressed 293 cell line, cotransfected with KCNE1 Validated Chimera RNAi ( Cat # H00003753-R01V ) (Lane 2) or non-transfected control (Lane 1). Blot probed with KCNE1 monoclonal antibody (M01), clone 5B12 (Cat # H00003753-M01 ). GAPDH ( 36.1 kDa ) used as specificity and loading control.
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