The KCNQ1 gene belongs to a large family of genes that provide instructions for making potassium channels. These channels, which transport positively charged atoms (ions) of potassium out of cells, play key roles in a cell's ability to generate and transmit electrical signals.

Dec 25, 2024 · KCNQ1 (Potassium Voltage-Gated Channel Subfamily Q Member 1) is a Protein Coding gene. Diseases associated with KCNQ1 include Long Qt Syndrome 1 and Jervell And Lange-Nielsen Syndrome 1. Among its related pathways …

Apr 30, 2007 · Background— Type-1 long-QT syndrome (LQTS) is caused by loss-of-function mutations in the KCNQ1-encoded I Ks cardiac potassium channel. We evaluated the effect of location, coding type, and biophysical function of KCNQ1 mutations on the clinical phenotype of …

Gene ID: 3784, updated on 8-Feb-2025. This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3.

Feb 25, 2025 · Loss-of-function (LOF) pathogenic variants in KCNQ1 encoding a cardiac potassium channel predispose to sudden cardiac death in type 1 congenital long QT syndrome (LQT1). To determine the spectrum of molecular mechanisms responsible for this life-threatening condition, we used an integrative a …

Oct 11, 2017 · In this study, we curated from the literature a high-quality set of 107 functionally characterized KCNQ1 variants. Based on this data set, we completed a detailed quantitative analysis on the sequence conservation patterns of subdomains of KCNQ1 and the distribution of pathogenic variants therein.

Jan 23, 2020 · KCNQ1, also known as Kv7.1, is a voltage-dependent K + channel that regulates gastric acid secretion, salt and glucose homeostasis, and heart rhythm. Its functional properties are regulated in a tissue-specific manner through co-assembly with beta subunits KCNE1-5.

HGNC Approved Gene Symbol: KCNQ1. Cytogenetic location: 11p15.5-p15.4 Genomic coordinates (GRCh38) : 11:2,445,008-2,849,105 (from NCBI) Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints.

Jan 23, 2020 · KCNQ1, also known as Kv7.1, is a voltage-dependent K + channel that regulates gastric acid secretion, salt and glucose homeostasis, and heart rhythm. Its functional properties are regulated in a tissue-specific manner through co-assembly with beta subunits KCNE1–5.

Of the forty known human Kv channel pore-forming α subunits that coassemble in various combinations to form the fundamental tetrameric channel pore and voltage sensor module, KCNQ1 is unique.