KCNQ1
LOCUS ID3784
GENE_SYMBOLKCNQ1
GENE NAMEpotassium channel, voltage gated KQT-like subfamily Q, member 1
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 some tissues, and biallelic expression in others. This gene is located in a region of chromosome 11 amongst other imprinted genes that are associated with Beckwith-Wiedemann syndrome (BWS), and itself has been shown to be disrupted by chromosomal rearrangements in patients with BWS. Altertively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]

OBSERVATIONS

Complication Evidence PMID
NephropathySeveral common KCNQ1 gene polymorphisms have been associated with the risk of type 2 diabetes (T2DM) and diabetic nephropathy.26970180