KCNE1L
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KCNE1-like also known as KCNE1L is a protein that in humans is encoded by the KCNE1L gene.[1][2]
Function
Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a membrane protein that has sequence similarity to the KCNE1 gene product, a member of the potassium channel, voltage-gated, isk-related subfamily.[2]
Clinical significance
This 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.[1]
References
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<references />, or <references group="..." />Further reading
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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