The KCNQ1 gene homepage
| General information |
| Gene symbol |
KCNQ1 |
| Gene name |
potassium voltage-gated channel, KQT-like subfamily, member 1 |
| Chromosome |
11 |
| Chromosomal band |
p15.5 |
| Imprinted |
- |
| Genomic reference |
NG_008935.1 |
| Transcript reference |
NM_000218.2 |
| Associated with diseases |
WD |
| Citation reference(s) |
Pan M et al, 2011
Zhang T et al, 2010 |
| Refseq URL |
Coding DNA reference sequence |
| Curators (0) |
- |
| Total number of public variants reported |
961 |
| Unique public DNA variants reported |
572 |
| Individuals with public variants |
0 |
| Hidden variants |
- |
| Notes |
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]
Also known as: LQT; RWS; WRS; LQT1; SQT2; ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9; Kv7.1; KVLQT1 |
| Date created |
April 21, 2013 |
Active transcripts
| Copyright & disclaimer |
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