low density lipoprotein (LDL) receptor related protein (LRP) 5 or 7

Function

• involved in Wnt1 signaling pathway,
• interacts with frizzled, axin

Structure

• belongs to the LDLR family
• contains 4 EGF-like domains
• contains 3 LDL-receptor class A domains
• contains 20 LDL-receptor class B repeats

Compartment

membrane

Expression

• widely expressed
• high expression in liver

Pathology

• mutations in LRP5 are associated with
  • osteoporosis-pseudoglioma syndrome
  • susceptibility to osteoporosis
  • familial exudative vitreoretinopathy (FEVR)
  • high bone mass trait (HBM)
  • endosteal hyperostosis Worth type
  • autosomal dominant osteosclerosis
  • osteopetrosis type 1
  • van Buchem disease type 2

Genetics

• polymorphisms associated with variation in bone mass & size

More general terms

• low-density lipoprotein (LDL) receptor related protein (LRP)
• phosphoprotein

Additional terms

• Low density lipoprotein receptor-related protein 5-like protein (LRP5L)

Database

• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:4041
• OMIM: https://mirror.omim.org/entry/144750
• OMIM: https://mirror.omim.org/entry/166710
• OMIM: https://mirror.omim.org/entry/259770
• OMIM: https://mirror.omim.org/entry/601813
• OMIM: https://mirror.omim.org/entry/601884
• OMIM: https://mirror.omim.org/entry/603506
• OMIM: https://mirror.omim.org/entry/607634
• OMIM: https://mirror.omim.org/entry/607636
• UniProt: http://www.uniprot.org/uniprot/O75197.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=4041