| Pubmed | emedicine | OMIM | NORD | Web | Ggl Images | Yho Images | Videos |

LRP7

MIM.603506 11q13.4

 

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.

Pathology

-  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)



Forum de l'article

Contact us at humpath2004@yahoo.ca if you want to be the curator of this page or this section.
Copyright www.humpath.com