KCNQ1
LOCUS ID3784
GENE_SYMBOLKCNQ1
GENE NAMEpotassium channel, v
SYNONYMNSLQT, RWS, WRS, LQT1, SQT2, ATFB1, ATFB3, JLNS1, KC8, KC9, Kv1.9, Kv7.1, KVLQT1
CHROMOSOME11
HOMOLOGENE ID85014
microRNAsNANA
GENE SUMMARY
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. 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. This gene exhibits tissue-specific imprinting, with preferential expression from the materl allele in

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. Several common KCNQ1 gene polymorphisms have been associated with the risk of type 2 diabetes (T2DM) and diabetic nephropathy.26970180
Neuropathy1. Differential methylation of the type 2 diabetes susceptibility locus KCNQ1 is associated with insulin sensitivity and is predicted by CpG site specific genetic variation.30641161