基因名称(Gene Name)
KCNE1L AMMECR2
蛋白名称
Potassium voltage-gated channel subfamily E member 1-like protein (AMME syndrome candidate gene 2 protein)
免疫原
Synthesized peptide derived from human protein . at AA range: 40-120
特异性
KCE1L Monoclonal Antibody detects endogenous levels of protein.
组成
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
背景
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],
功能
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.,
