KCNE3

KCNE3

A gene on chromosome 11q13.4 that encodes a beta subunit of the voltage-gated, isk-related potassium channel subfamily. This type-I membrane protein assembles with a potassium channel alpha-subunit to modulate gating kinetics and stabilise the multimeric complex. It is primarily expressed in the kidneys.

Molecular pathology
KCNE3 mutations are associated with hypokalemic periodic paralysis.
References in periodicals archive ?
The KCNE gene family, including KCNE1, KCNE2, KCNE3, KCNE4, and KCNE5 genes, encodes protein Mink and Mink-related peptide (MIRP1-4) protein molecules that form [beta]-subunit to constitute the functional potassium channel [28].
Later in 2011, KCNE3 allele mutation was found in patients with tinnitus [32].
According to cDNA library and existing research reports, we designed and synthesized the primers of KCNE1 and KCNE3 genes based on the KCNE1 and KCNE3 exon's gene sequence.
Within the three exons of KCNE3, it is known that KCNE3-exon-3, where we found 492 A/C SNPs, participates in encoding protein MIRP2.
Dll4 expression determines "tip" cell identity by regulating expression of a number of cell surface receptors including VEGFR-2, VEGFR-3, NRP1, CD34, Unc5B, PDGF-BB, and Kcne3 ([35-37]; unpublished data IBL).
These mutations include but are not limited to the SCN5A, GPD1-L, CACNA1C, CACNB2, SCN1B, KCNE3, SCN3B, and HCN4genes (5).
Functional effects of KCNE3 mutation and its role in the development of Brugada syndrome.
The Mink expression level was influenced by the Mink S38G gene polymorphism and by other gene polymorphisms, such as KCNQ1 S140G, KCNE2 R27C, and KCNE3 R53H mutations.
(12-13) Tambien se han encontrado mutaciones polimorfismos variantes en el gen KCNE3 Arg83His gen del canal de potasio.
A mutation in the KCNE3 potassium channel gene Is associated with susceptibility to thyrotoxic hypokalemic periodic paralysis.JCIinEndocrinolMetab.
Since then, "gain-of-function" mutations in other genes encoding potassium ion channels have been found to be associated with FAF, including KCNE2 [5], KCNE3 [6], KCNA5 [7], and KCNJ2 [8].
Schmitt, "KCNE3 mutation V17M identified in a patient with lone atrial fibrillation," Cellular Physiology and Biochemistry, vol.