potassium voltage-gated channel subfamily E regulatory subunit 5(KCNE5) Homo sapiens 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 which has sequence similarity to the KCNE1 gene product, a member of the potassium channel, voltage-gated, isk-related subfamily. 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. [provided by RefSeq, Jul 2008],disease:Defects in KCNE1L may be a cause of AMME complex [MIM:300194], also known as Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis, and of additional mild abnormalities of the heart. The AMME complex is a contiguous gene deletion syndrome.,similarity:Belongs to the potassium channel KCNE family.,tissue specificity:Highly expressed in heart, skeletal muscle, brain, spinal cord and placenta.,
