KCNE1

(redirected from LQT5)

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 ?
Long QT and Jervelle Lange-Nielsen syndromes: Genetic defects and channel abnormalities Syndrome Gene Function Autosomal dominant LQT1 KCNQ1 [I.sub.ks] Decreased LQT2 KCNH2 [I.sub.Kr] Decreased LQT3 SCN5A [I.sub.Na] Decreased LQT4 ANK2 [I.sub.Na, K] Decreased LQT5 KCNE1 [I.sub.ks] Decreased LQT6 KCNE2 [I.sub.kr] Decreased LQT7 KCNJ2 [I.sub.k1] Decreased LQT8 CACNA1C [I.sub.Ca,L] Increased LQT9 CAV3 [I.sub.Na] Increased LQT10 SCN4B [I.sub.Na] Increased Autosomal recessive JLN1 KCNQ1 [I.sub.ks] Decreased JLN2 KCNE1 [I.sub.ks] Decreased Cardiac sodium ([I.sub.Na]), Potassium ([I.sub.ks], [I.sub.Kr], [I.sub.k1]) and Calcium currents
Schott et al[27] mapped the fourth LQTS locus to chromosome 4q25-27 (LQT4), while a fifth gene (minK), located on chromosome 21q22,[28,29] was shown to be LQT5. More recently, a sixth gene, the minK-related peptide 1 (MiRP1), localized to 21q22 as well (Figure 2), was identified.[30] Several other families with autosomal-dominant LQTS are not linked to any known LQTS loci, indicating the existence of additional LQTS-causing genes.
Since mutations in KVLQT1 were shown to cause LQTS (LQT1), mutations in minK were sought because mink plays an essential role in the development of [I.sub.Ks] (see "LQT5: minK").[36]