It’s the GeneMedi’s summary page for Target/Biomarker Introduction of KCNQ1. The page also collects GeneMedi’s different modalities and formats products for KCNQ1 in therapeutics/drug discovery and IVD diagnostics, which is including antibody, ADC, bispecific, antigen, ORF vector, VLP, etc. With GeneMedi’s target-insight database-GM ITD database, the KCNQ1 target is also connected to human indications/diseases/conditions/MOA.
Target sublocation: Transmembrane Protein.
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]