LRP7 is a member of the low density lipoprotein receptor (LDLR) family. Members of the low density lipoprotein receptor (LDLR) family are cell surface proteins that bind and internalize ligands in the process of receptor-mediated endocytosis.
germline mutations in the osteoporosis-pseudoglioma syndrome (MIM.259770)
germline mutation in family with high bone mass (MIM.601884)
germline mutation in autosomal dominant osteopetrosis type I (MIM.607634)
germline mutation in autosomal dominant endosteal hyperostosis (MIM.144750)
germline mutation in autosomal dominant osteosclerosis (144750)
variation in predisposition to osteoporosis (166710)
germline mutation in familial exudative vitreoretinopathy (MIM.133780)