| Gene Symbol |
LRP5
|
| Gene Synonyms |
HBM LR3 OPS EVR1 EVR4 LRP7 OPPG BMND1 LRP-5 LRP-7 OPTA1 PCLD4 VBCH2 |
| Gene Full Name |
LDL receptor related protein 5 |
| Gene 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] |
| Alternative Names |
BMND1 EVR1 EVR4 HBM Low density lipoprotein receptor related protein 5 Low density lipoprotein receptor related protein 7 Low-density lipoprotein receptor-related protein 5 LR3 LRP-5 Lrp5 LRP5_HUMAN LRP7 OPPG OPS OPTA1 Osteoporosis pseudoglioma syndrome VBCH2 |
| Molecular Weight(MW) |
179 kDa |
| Cellular Localization |
Membrane, Endoplasmic reticulum. |