LDL receptor related protein 5
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Diagnostic Grade (Green)
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalDuctal plate malformation
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
BIALLELIC, autosomal or pseudoautosomalOsteogenesis imperfecta
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalOsteopetrosis
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownPolycystic liver disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownRetinal disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalSkeletal dysplasia
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal+6 more panels — install the extension to see the full list inline on any page.
osteoporosis-pseudoglioma syndrome
Familial exudative vitreoretinopathy
autosomal dominant osteosclerosis, Worth type
polycystic liver disease 4 with or without kidney cysts
osteoporosis
exudative vitreoretinopathy 4
Autosomal dominant osteopetrosis type 1
Osteoporosis - pseudoglioma
autosomal dominant osteopetrosis 1
hyperostosis corticalis generalisata
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Low-density lipoprotein receptor-related protein 5
Acts as a coreceptor with members of the frizzled family of seven-transmembrane spanning receptors to transduce signal by Wnt proteins (PubMed:11336703, PubMed:11448771, PubMed:11719191, PubMed:15778503, PubMed:15908424, PubMed:16252235). Activates the canonical Wnt signaling pathway that controls cell fate determination and self-renewal during embryonic development and adult tissue regeneration (PubMed:11336703, PubMed:11719191). In particular, may play an important role in the development of the posterior patterning of the epiblast during gastrulation (By similarity). During bone development, regulates osteoblast proliferation and differentiation thus determining bone mass (PubMed:11719191). Mechanistically, the formation of the signaling complex between Wnt ligand, frizzled receptor and LRP5 coreceptor promotes the recruitment of AXIN1 to LRP5, stabilizing beta-catenin/CTNNB1 and activating TCF/LEF-mediated transcriptional programs (PubMed:11336703, PubMed:14731402, PubMed:24706814, PubMed:25920554). Acts as a coreceptor for non-Wnt proteins, such as norrin/NDP. Binding of norrin/NDP to frizzled 4/FZD4-LRP5 receptor complex triggers beta-catenin/CTNNB1-dependent signaling known to be required for retinal vascular development (PubMed:16252235, PubMed:27228167). Plays a role in controlling postnatal vascular regression in retina via macrophage-induced endothelial cell apoptosis (By similarity)
Curated MONDO disease pages that list LRP5 among their top associated genes.
LRP5 · O75197
Mean pLDDT
77.9/ 100
Confident
1,615 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
