AlphaFold predicted structure
LRP6 · O75581

Mean pLDDT
79.2/ 100
Confident
1,613 residues
Confidence breakdown
- Very high(≥ 90)51%
- Confident(70–90)28%
- Low(50–70)4%
- Very low(< 50)17%
AlphaFold (Jumper et al., 2021) · CC BY 4.0
LDL receptor related protein 6
Annotations refreshed 9 hours ago.
Diagnostic Grade (Green)
Ectodermal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOsteogenesis imperfecta
Skeletal dysplasia
tooth agenesis, selective, 7
coronary artery disease, autosomal dominant 2
tooth agenesis
Oligodontia
hereditary disease
orofacial cleft
autosomal dominant hypohidrotic ectodermal dysplasia
androgenetic alopecia
ectodermal dysplasia syndrome
Isolated polycystic liver disease
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Low-density lipoprotein receptor-related protein 6
Component of the Wnt-Fzd-LRP5-LRP6 complex that triggers beta-catenin signaling through inducing aggregation of receptor-ligand complexes into ribosome-sized signalosomes (PubMed:11357136, PubMed:11448771, PubMed:15778503, PubMed:16341017, PubMed:16513652, PubMed:17326769, PubMed:17400545, PubMed:19107203, PubMed:19293931, PubMed:19801552, PubMed:28341812, PubMed:34896607). Cell-surface coreceptor of Wnt/beta-catenin signaling, which plays a pivotal role in various processes including retinal angiogenesis and bone formation (PubMed:11357136, PubMed:11448771, PubMed:15778503, PubMed:16341017, PubMed:16513652, PubMed:17326769, PubMed:17400545, PubMed:19107203, PubMed:19293931, PubMed:19801552, PubMed:28341812, PubMed:34896607). The Wnt-induced Fzd/LRP6 coreceptor complex recruits DVL1 polymers to the plasma membrane which, in turn, recruits the AXIN1/GSK3B-complex to the cell surface promoting the formation of signalosomes and inhibiting AXIN1/GSK3-mediated phosphorylation and destruction of beta-catenin (PubMed:16513652). Required for posterior patterning of the epiblast during gastrulation (By similarity)
LRP6 · O75581

Mean pLDDT
79.2/ 100
Confident
1,613 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0