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 ?
Professor Guy Van Camp, who led the research said, 'Further studies on KCNE1 show the version of the gene associated with increased risk to noise causes the encoded ion channel to open more rapidly than the normal version.
The FAMILION Postmortem Channelopathies Test includes targeted sequencing of 6 genes (KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, RYR2) and is performed in a CLIA-certified commercial laboratory that meets all applicable state and federal guidelines.
The remainder may have mutations in KCNE1 or KCNE2 encoding minx (8) and MiRP1 (4), respectively, or in the SCN5A gene encoding the SCN5A [Na.
28,29] This [3-subunit, which coassembles with KVLQT1 (KCNQ1), is called mink or KCNE1, and encodes a short protein with only 130 amino acids and only 1 transmembrane-spanning segment (Figure 2).