KCNE1 gene

KCNE1 gene

a mutation of the gene is responsible for Jervell and Lange-Nielsen 2 syndromes; located at 21q22.1-22.2; gene encodes subunits of voltage-gated potassium-channel proteins; important in endolymph homeostasis.
References in periodicals archive ?
Among them, KCNE1 gene is expressed in the human cochlea, and KCNE3 in the lymph sac epithelial cells within the inner ear [29, 30]; thus, they may play a very important role in maintaining the stabilization of inner ear lymph circulation.
In 1997, KCNE1 gene mutation was found to be related to long QT syndrome (LQTS), and approximately 30% of patients with LQTS were accompanied by congenital deafness, and then KCNE1 was speculated to play an important role in the K (+) regulation of the inner ear [31].
In 1994, Lai found that the mutation of KCNE1 gene can cause a change of K+ channel function [38].
In 2005, Doi [33] analyzed the genotype and sequence of KCNE1 and KCNE3 in 63 cases of Japanese patients with MD and found that 112 G/A SNPs in KCNE1 gene mutations (rs1805027) and 198 T/C SNPs in KCNE3 gene mutations (rs11702354) have a significant difference compared with the control group.
An, "Association of rs1805127 polymorphism of KCNE1 gene with atrial fibrillation in Uigur population of Xinjiang" Chinese Journal of Medical Genetics, vol.