KCNE1(redirected from OTTHUMP00000108625)
Notation for a voltage-gated potassium-channel gene.
KCNE1A 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.
KVLQT1 mutations are associated with Jervell and Lange-Nielsen and Romano-Ward forms of long-QT syndrome.