What is KCNQ1 gene?
Normal Function The KCNQ1 gene belongs to a large family of genes that provide instructions for making potassium channels. These channels, which transport positively charged atoms (ions) of potassium out of cells, play key roles in a cell’s ability to generate and transmit electrical signals.
Where is KCNQ1 expressed?
Cytoplasmic and membranous expression mainly in adrenal gland, thyroid gland and stomach.
What are IKS channels?
In cardiac myocytes, the IKs channel is a macromolecular complex composed of a pore-forming α (KCNQ1) subunit and modulatory β (KCNE1) subunit, as well as intercellular proteins critical for controlling the phosphorylation state of the complex (1).
What is IKs and IKr?
The 2 components of the delayed rectifier potassium current, IKr (rapid) and IKs (slow), play a dominant role in the repolarization of the action potential and are important determinants of its duration. Results demonstrate the importance of IKs density variations in heterogeneity of repolarization.
What is IKs heart?
The cardiac IKs (KCNQ1/KCNE1) channel is one of the main contributors to the repolarizing currents that regulate the ventricular action potential duration (APD) and thus the QT interval in the electrocardiogram [1–3].
How common is KCNQ2?
KCNQ2 is rare, representing around 10% of patients with epileptic encephalopathy with onset in the first three months of life; however, the incidence of KCNQ2 is approximately 2.8/100,000 live births (or over 3,000 new cases annually worldwide), which is roughly half the number of births of Dravet Syndrome, the most …
Where does the KCNQ1OT1 gene come from?
This locus consists of 8–10 protein-coding genes, specifically expressed from the maternal allele (including the KCNQ1 gene), and the paternally expressed non-coding RNA gene KCNQ1OT1. KCNQ1OT1 and KCNQ1 are imprinted genes and are part of an imprinting control region (ICR).
What is the role of KCNQ1 and KCNE1?
KCNE1 is primarily known for modulating the cardiac and epithelial Kv channel α subunit, KCNQ1. KCNQ1 and KCNE1 form a complex in human ventricular cardiomyocytes that generates the slowly activating K+ current, IKs. Together with the rapidly activating K+ current (IKr), IKs is important for human ventricular repolarization.
What kind of domain does the KCNE1 gene have?
Takumi et al discovered the KCNE1 gene and it was correctly predicted to encode a single-transmembrane domain protein with an extracellular N-terminal domain and a cytosolic C-terminal domain.
What happens to the KCNQ1OT1 allele in males?
The loss of the maternal methylation of the KCNQ1OT1 allele is most commonly associated with Beckwith-Wiedemann syndrome. The deletion of KCNQ1OT1 in males can result in a removal of the repressor in six cis genes.