| Gene Symbol |
KCNQ1
|
| Gene Synonyms |
ATFB1 ATFB3 I79_015904 JLNS1 KCNA8 KCNA9 Kv1.9 Kv7.1 KVLQT1 LQT LQT1 RWS SQT2 WRS |
| Gene Full Name |
potassium voltage-gated channel subfamily Q member 1 |
| 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 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] |
| Alternative Names |
FLJ26167 IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1 Kcnq1 kidney and cardiac voltage dependend K+ channel KQT-like 1 KQT-like subfamily member 1 potassium channel voltage gated KQT-like subfamily Q member 1 potassium channel voltage-gated KQT-like subfamily Q member 1 Potassium voltage-gated channel subfamily KQT member 1 potassium voltage-gated channel KQT-like subfamily member 1 potassium voltage-gated channel subfamily Q member 1 slow delayed rectifier channel subunit tKvLQT1 voltage-gated potassium channel subunit Kv7.1 |
| Molecular Weight(MW) |
74kDa |
| Source |
Rabbit |
| Cellular Localization |
Cell membrane;Cytoplasmic vesicle membrane;Early endosome;Membrane raft;Endoplasmic reticulum;Basolateral cell membrane;Apical cell membrane |