KCNE1


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Related to KCNE1: KCNE2, KCNQ1

KCNE1

Notation for a voltage-gated potassium-channel gene.

KCNE1

A gene on chromosome 21q22.12 that encodes a member of the KCNE K+ channel family, which are essential to many cellular functions; they are protean in their electrophysiologic and pharmacologic properties. The KCNE1 protein product associates with the KVLQT1 protein product forming the delayed rectifier potassium channel.

Molecular pathology
KVLQT1 mutations are associated with Jervell and Lange-Nielsen and Romano-Ward forms of long-QT syndrome.
References in periodicals archive ?
KCNE1 has 2-4 exons in several different transcripts in humans, and the last exon is already known to participate in encoding proteins (KCNE1-exon).
Within the exons of KCNE1, it is known that the last exon, where we found 653 C/T SNPs, participates in encoding protein Mink; thus, 653 C/T SNPs are the coding SNPs (cSNPs).
[4] Human genes: KCNE1, potassium voltage-gated channel, Isk-related family, member 1; IL10RB, interleukin-10 receptor, [beta]; NQO1, NAD(P)H dehydrogenase, quinone 1; AKAP10, A kinase (PRKA)anchor protein 10.
Duan, "Study on the correlation between CETP TaqIB, KCNE1 S38G and eNOS T-786C gene polymorphisms for predisposition and non-valvular atrial fibrillation" Zhonghua Liuxingbingxue Zazhi, vol.
An, "Association of rs1805127 polymorphism of KCNE1 gene with atrial fibrillation in Uigur population of Xinjiang" Chinese Journal of Medical Genetics, vol.
KCNQ1 (KVLOT1) channel subunits coassemble with KCNE1 (Mink) subunits to form channels that conduct the slow delayed rectifier [K.sup.+] current, 7KS in the heart which is important for normal termination of the plateau phase, and repolarization of atrial and ventricular action potentials.
Intronic PCR primer sequences were designed for robust amplification of the KCNH2 and KCNE1 exons, without nesting or additives (19, 20), under identical thermocycling conditions.
The 29 probands without mutations in KCNH2 were also screened for mutations in KCNQ1, KCNE1, and SCN5A, and several additional mutations were found (M.
MiRP1, the minK-related peptide 1, or KCNE2, is a novel potassium channel gene recently cloned and characterized by Abbott and colleagues.[30] MiRP1 is a 123-amino-acid channel protein with a single predicted transmembrane segment similar to that described for minK.[34] Chromosomal localization studies mapped this KCNE2 gene to chromosome 21q22.1 (Figure 2), within 79 kb of KCNE1 (minK) and arrayed in opposite orientation.[30] The open reading frames of these 2 genes share 34% identity, and both are contained in a single exon, suggesting that they are related through gene duplication and divergent evolution.