Description

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.

References
1. Biochem Biophys Res Commun. 2009 May 29;383(2):206-9.  2. J Biol Chem. 2009 Jun 12;284(24):16452-62.

Specification
Aliases	LQT; RWS; WRS; LQT1; SQT2; ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9; Kv7.1; KVLQT1; FLJ26167
Entrez GeneID	3784
Swissprot	P51787
clone	5E12
WB Predicted band size	95kDa
Host/Isotype	Mouse IgG2b
Antibody Type	Primary antibody
Storage	Store at 4°C short term. Aliquot and store at -20°C long term. Avoid freeze/thaw cycles.
Species Reactivity	Human
Immunogen	Purified recombinant fragment of human KCNQ1 expressed in E. Coli.
Formulation	Ascitic fluid containing 0.03% sodium azide.

Application
WB	1/500 - 1/2000
FCM	1/200 - 1/400
ELISA	1/10000