K v 7.1 (KvLQT1) is a potassium channel protein whose primary subunit in humans is encoded by the KCNQ1 gene. [5] Its mutation causes Long QT syndrome, K v 7.1 is a voltage and lipid-gated potassium channel present in the cell membranes of cardiac tissue and in inner ear neurons among other tissues.

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.

2024年12月25日 · 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 are Cardiac conduction and Potassium Channels.

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.

2007年4月30日 · 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 …

2017年10月11日 · 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.

2020年1月23日 · 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 …

2020年1月23日 · 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 …

2024年10月10日 · Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus. Identification of KvLQT1 K+ channels as new regulators of non-small cell lung cancer cell proliferation and migration.

2020年5月1日 · KCNQ1 mutations can result in channel defects and lead to several diseases including atrial fibrillation and long QT syndrome. Therefore, a thorough structure-function understanding of this channel complex is essential to understand its role in both normal and disease biology.