Analysis of KCNQ1 Gene Rearrangement by Southern Blot Technology (CAT#: STEM-MHT-0050-LGZ)

Introduction

Official Full Name: potassium voltage-gated channel subfamily Q member 1
Also known as: LQT; RWS; WRS; LQT1; SQT2; ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9; Kv7.1; KVLQT1
This gene encodes a voltage-gated potassium channel that is required for the repolarization phase of the cardiac action potential. This protein can form heteromers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome 1 (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and familial atrial fibrillation. The gene exhibits tissue-specific imprinting, with preferential expression of the maternal allele in some tissues and preferential expression of the biallelic gene in others. The gene is located in a region of chromosome 11, along with other imprinted genes associated with Beckwith-Wiedemann syndrome (BWS), which itself has been shown to be disrupted by chromosomal rearrangements in BWS patients. Alternative splicing transcript variants of this gene have been identified.