Gene Symbol | LRP5 |
Entrez Gene ID | 4041 |
Full Name | LDL receptor related protein 5 |
Synonyms | BMND1,EVR1,EVR4,HBM,LR3,LRP-5,LRP7,OPPG,OPS,OPTA1,VBCH2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Osteoporosis-pseudoglioma syndrome, 259770 (3); [Bone mineral density variability 1], 601884 (3); Hyperostosis, endosteal, 144750 (3); van Buchem disease, type 2, 607636 (3); Osteosclerosis, 144750 (3); {Osteoporosis}, 166710 (3); Exudative vitreoretinopathy 4, 601813 (3); Osteopetrosis, autosomal dominant 1, 607634 (3) |