KCNQ1

Also known as ATFB1, ATFB3, JLNS1, KCNA8, KCNA9, KVLQT1, Kv1.9, Kv7.1

Potassium voltage-gated channel subfamily KQT member 1 is a potassium channel protein encoded in the human by the KCNQ1 gene. Its mutation causes long QT syndrome, Kv7.1 is a voltage and lipid-gated potassium channel present in the cell membranes of cardiac tissue and in inner ear neurons among other tissues. In the cardiac cells, Kv7.1 mediates the IKs (or slow delayed rectifying K+) current that contributes to the repolarization of the cell, terminating the cardiac action potential and thereby the heart's contraction. It is a member of the KCNQ family of potassium channels.

Gene data

KCNQ1

Name: potassium voltage-gated channel subfamily Q member 1
Type: protein-coding
Position: 2,444,654–2,849,105 (+)
Aliases: ATFB1, ATFB3, JLNS1, KCNA8, KCNA9, KVLQT1, Kv1.9, Kv7.1, LQT, LQT1
Ensembl: ENSG00000053918
RefSeq RNA: NM_000218.3, NM_001406836.1, NM_001406837.1, NM_001406838.1, NM_001406839.1
RefSeq protein: NP_000209.2, NP_001393765.1, NP_001393766.1, NP_001393767.1, NP_001393768.1

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 maternal 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. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011].