Immunogen
Synthesized peptide derived from human LRP5 AA range: 1047-1097
Specificity
This antibody detects endogenous levels of LRP5 at Human/Mouse
Source
Polyclonal, Rabbit,IgG
Formulation
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Dilution rate
WB 1：500-2000
Purification process (Immunogen)
The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.
Background
This gene encodes a transmembrane low-density lipoprotein receptor that binds and internalizes ligands in the process of receptor-mediated endocytosis. This protein also acts as a co-receptor with Frizzled protein family members for transducing signals by Wnt proteins and was originally cloned on the basis of its association with type 1 diabetes mellitus in humans. This protein plays a key role in skeletal homeostasis and many bone density related diseases are caused by mutations in this gene. Mutations in this gene also cause familial exudative vitreoretinopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014],
Function
disease:Defects in LRP5 are a cause of endosteal hyperostosis Worth type (WENHY) [MIM:144750]; also known as autosomal dominant osteosclerosis. WENHY is an autosomal dominant sclerosing bone dysplasia clinically characterizd by elongation of the mandible, increased gonial angle, flattened forehead, and the presence of a slowly enlarging osseous prominence of the hard palate (torus palatinus). Serum calcium, phosphorus and alkaline phosphatase levels are normal. Radiologically, it is characterized by early thickening of the endosteum of long bones, the skull and of the mandible. With advancing age, the trabeculae of the metaphysis become thickened. WENHY becomes clinically and radiologically evident by adolescence, does not cause deformity except in the skull and mandible, and is not associated with bone pain or fracture. Affected patients have normal height, proportion, intelligence and
Fields
>>mTOR signaling pathway;>>Wnt signaling pathway;>>Parathyroid hormone synthesis, secretion and action;>>Alzheimer disease;>>Pathways of neurodegeneration - multiple diseases;>>Pathways in cancer;>>Breast cancer;>>Hepatocellular carcinoma;>>Gastric cancer
Human protein sequence Database
O75197
Mouse protein sequence database
Q91VN0
Rat protein sequence database
Cellular localization
Membrane ; Single-pass type I membrane protein . Endoplasmic reticulum . Chaperoned to the plasma membrane by MESD. .
Tissue expression
Widely expressed, with the highest level of expression in the liver and in aorta.
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