免 疫 原：KLH conjugated synthetic peptide derived from human LRP5
抗原表位：501-600/1615
抗原细胞定位：Extracellular
SWISS：O75197
Gene ID ：4041
Human Gene ID：4041

LRP5 is involved in the Wnt/beta catenin signaling pathway, probably by acting as a coreceptor together with Frizzled for Wnt. Defects in LRP5 are a cause of autosomal dominant and autosomal recessive familial exudative vitreoretinopathy (FEVR). Autosomal dominant FEVR is also referred to as exudative vitreoretinopathy 1 (EVR1); also known as Criswick-Schepens syndrome. FEVR is a disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. FEVR is reported to have a penetrance of 100%, but clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease-related abnormality is an arc of avascular retina in the extreme temporal periphery.
Function：Component of the Wnt-Fzd-LRP5-LRP6 complex that triggers beta-catenin signaling through inducing aggregation of receptor-ligand complexes into ribosome-sized signalsomes. Cell-surface coreceptor of Wnt/beta-catenin signaling, which plays a pivotal role in
Subunit：Homodimer; disulfide-linked. Forms phosphorylated oligomer aggregates on Wnt-signaling (By similarity). Component of a Wnt-signaling complex that contains a WNT protein, a FZD protein and LRP5 or LRP6. Interacts with FZD8; the interaction is formed on WNT
Subcellular Location：Membrane; Single-pass type I membrane protein. Endoplasmic reticulum.
Tissue Specificity：Widely expressed, with the highest level of expression in the liver.
Post-translational modifications：Phosphorylation of cytoplasmic PPPSP motifs regulates the signal transduction of the Wnt signaling pathway through acting as a docking site for AXIN1 (By similarity).
DISEASE：Defects in LRP5 are the cause of vitreoretinopathy exudative type 4 (EVR4) [MIM:601813]. EVR4 is a disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. Thi
Similarity：Belongs to the LDLR family.
Contains 4 EGF-like domains.
Contains 3 LDL-receptor class A domains.
Contains 20 LDL-receptor class B repeats.
Important Note：This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.