Code
BT-MCA4240
Host
Mouse
Isotype
Mouse IgG2b
Size
100μL,50μL
Clonality
Monoclonal
Immunogen
Purified recombinant fragment of human KCNQ1 expressed in E. Coli.
Formulation
Ascitic fluid containing 0.03% sodium azide.
Storage
Store at 4°C short term. Aliquot and store at -20°C long term.
Background
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.
Uniprot accession
Molecular weight
95kDa
Gene ID
3784
Synonyms
LQT;RWS;WRS;LQT1;SQT2;ATFB1;ATFB3;JLNS1;KCNA8;KCNA9;Kv1.9;Kv7.1;KVLQT1;FLJ26167
Research area
Cardiovascular,Metabolism,Neuroscience,Signal transduction
Target protein
KCNQ1
