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LRP6

Chr 12p13.2

LDL receptor related protein 6

Aliases:
ADCAD2
MANE:
ENST00000261349.9

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Ectodermal dysplasia

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Osteogenesis imperfecta

  • Skeletal dysplasia

Disease associations (Open Targets)

  • tooth agenesis, selective, 7

    0.70
  • coronary artery disease, autosomal dominant 2

    0.70
  • tooth agenesis

    0.64
  • Oligodontia

    0.55
  • hereditary disease

    0.49
  • orofacial cleft

    0.40
  • autosomal dominant hypohidrotic ectodermal dysplasia

    0.38
  • androgenetic alopecia

    0.35
  • ectodermal dysplasia syndrome

    0.34
  • Isolated polycystic liver disease

    0.33

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

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)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.