KCNE1

Description 
potassium voltage-gated channel, Isk-related family, member 1

 

KCNE1 (NM_000219.2) encodes a transmembrane protein, potassium voltage-gated channel subfamily E member 1, known to associated with the product of KVLQT1 to form a delayed rectified potassium ion channel.  The KCNE1 gene contains 3 exons and is located at 21q22.12  Mutations in KCNE1 have been associated with long QT syndrome (LQTS), including approximately 2% of autosomal dominant Romano-Ward syndrome and approximately 10% of autosomal recessive Jervell and Lange-Nielsen syndrome (Splawski, I et alCirculation. 2000;102:1178-1185; Napolitano, C et alJAMA. 2005;294:2975-2980).  In addition, mutations in KCNE1 have been associated with early onset familial atrial fibrillation (Olesen, MS et alBMC Med Genet. 2012;13:24:1-9).

Aliases 
ISK, JLNS, JLNS2, LQT2/5, LQT5, MinK
Chromosomal Locations 
21q22.12