Kcne1 is a member of Voltage-gated potassium (Kv) channels that represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. The diverse functions of Kv channels include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. The Kcne1 gene encodes a membrane protein which has sequence similarity to the KCNE1 gene product, a member of the potassium channel, voltage-gated, isk-related subfamily. Kcne1, an intronless gene is deleted in AMME contiguous gene syndrome and may be involved in the cardiac and neurologic abnormalities found in the AMME contiguous gene syndrome. Functionally, Kcne1 is a potassium channel ancillary subunit that is essential for generation of some native K(+) currents by virtue of formation of heteromeric ion channel complex with voltage-gated potassium (Kv) channel pore-forming alpha subunits. Kcne1 also functions as an inhibitory beta-subunit of the repolarizing cardiac potassium ion channel KCNQ1. Diseases associated with KCNE1 include Jervell And Lange-Nielsen Syndrome 2 and Long Qt Syndrome 5.View more View less
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