Entrez gene ID | | 4041 |
Official gene symbol | | LRP5 |
Full name | | low density lipoprotein receptor-related protein 5 |
Aliases | | ,BMND1,EVR1,EVR4,HBM,LR3,LRP7,OPPG,OPS,OPTA1,VBCH2, |
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. [provided by RefSeq] |
Location | | Chromosome: 11 Locus: 11q13.4 |
Gene position | | 68080108 - 68216743 Map Viewer |
Gene orientation | | plus |
Gene size | | 136636 bp |
Gene sequence |
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OMIM ID | | 603506 |
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