KCNQ1

KCNQ1

A gene on chromosome 11p15.5 that encodes a voltage-gated potassium channel required for the repolarisation phase of the cardiac action potential. The KCNQ1 gene product can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3.
 
Molecular pathology
KCNQ1 mutations are associated with hereditary long QT syndrome/Romano-Ward syndrome, Jervell and Lange-Nielsen syndrome and familial atrial fibrillation.
References in periodicals archive ?
CISD2 3 1 1 0 OTOGL 58 0 34 0 Watch list: low GC-can be problematic MYO6 34 0 27 0 Watch list: low GC-can be problematic GPR98 90 0 24 0 Watch list: low GC-can be problematic MYO3A 33 0 18 0 Watch list: low GC-can be problematic HSD17B4 26 0 13 0 Watch list: low GC-can be problematic PCDH15 39 0 12 0 Watch list: low GC-can be problematic RDX 14 0 10 0 Watch list: low GC-can be problematic SERPINB6 9 0 1 1 Watch list: high GC-can be problematic GIPC3 6 0 0 1 Watch list: high GC-can be problematic KCNQ1 17 0 0 1 Watch list: high GC-can be problematic P2RX2 10 0 0 1 Watch list: high GC-can be problematic TMIE 4 0 0 1 Watch list: high GC-can be problematic Table 3.
Treatment with [beta] blockers such as atenolol or nadolol is recommended for all patients with LQTS but may be most effective for LQT1 (22), in particular in patients with specific classes of KCNQ1 variants (23).
Background and Objective: Genetic studies on gestational diabetes (GDM) are relatively scarce; moreover, limited data is available for KCNQ1 polymorphism in Pakistani pregnant women.
En el primero de estos estudios se analizaron 24 genes y se encontro correlacion con polimorfismos del tipo SNP (de la traduccion al espanol que significa polimorfismo de cambio de una sola base) en SLC30A8, HHEX, CDKN2A/2, IGF2BP, CDC123/CAMK1D y KCNQ1 (14).
Postmortem molecular analysis of KCNQ1 and SCN5A genes in sudden unexplained death in young Australians.
In addition, a set of 7 target genes including growth-associated and diabetes-associated genes such as the imprinted gene KCNQ1 (potassium voltage--gated channel, KQT-like subfamily, member 1) were differentially methylated, differentially expressed, and associated with birth outcomes/ measures in relationship to prenatal arsenic exposure (Rojas et al.
R190Q) in KCNQ1 encoding alpha-subunit of slow delayed rectifier potassium current ([I.
Out of these KCNQ1 which is a potassium channel gene, its heterozygous mutation causes RWS while its homozygous mutation causes a much rarer condition Jervell Lange-Nielsen syndrome in which along with long QT interval deafness also occurs.
Impact of KCNJ11 TCF7L2 SLC30A8 IGF2BP2 PPARG SLC47A1 STK11 HHEX KCNQ1 CDKAL1 FTO CYP2C9 ADIPOQ CAPN10 gene polymorphisms on risk of type 2 diabetes and therapeutic response to sulfonylurea and metformin therapy.
There are several hundred congenital LQTS subtypes based on specific ion channel defects; the most common is LQTS1, with an inherited defect in the KCNQ1 gene, which regulates the slow potassium ion channel.