Gene KCNQ1

Also known as

KvLQT1, LQT1, JLNS1, potassium channel Kv7.1

Overview

KCNQ1 (Potassium Voltage-Gated Channel Subfamily Q Member 1) encodes the Kv7.1 potassium channel alpha subunit. In the heart, this channel conducts the slow delayed rectifier potassium current (IKs) essential for cardiac repolarization. KCNQ1 also forms channels in the inner ear, stomach, and intestine, where it regulates fluid and electrolyte secretion.

Mutations in KCNQ1 are the most common cause of Long QT syndrome (LQT1), accounting for about 40-50% of cases. LQT1 patients are particularly at risk during exercise and swimming. Biallelic mutations cause Jervell and Lange-Nielsen syndrome, which combines cardiac arrhythmia with congenital deafness. Common variants in KCNQ1 are also associated with type 2 diabetes risk through effects on insulin secretion.

Understanding your KCNQ1 genetic status is important for cardiac risk assessment and diabetes susceptibility. Individuals with pathogenic variants benefit from beta-blocker therapy and activity modification to prevent life-threatening arrhythmias.

NutraHacker Raw DNA Analysis Products that include this gene

• Whole Genome Sequencing Critical Genetics Report

Upload raw DNA data to get your very own analysis of gene KCNQ1 through your personalized DNA reports.