Check out the December Issue of our newsletter.
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 al. Circulation. 2000;102:1178-1185; Napolitano, C et al. JAMA. 2005;294:2975-2980). In addition, mutations in KCNE1 have been associated with early onset familial atrial fibrillation (Olesen, MS et al. BMC Med Genet. 2012;13:24:1-9).