| GENE NAME | LRP6 |
| CHROMOSOME | 12 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000070018 |
| UNIPROT ACCESSION NUMBER | O75581 |
| GO MOLECULAR FUNCTION | ['kinase inhibitor activity', 'coreceptor activity involved in Wnt signaling pathway', 'Wnt-protein binding', 'protein homodimerization activity', 'frizzled binding', 'Wnt-activated receptor activity', 'coreceptor activity involved in canonical Wnt signaling pathway', 'protein binding', 'toxin transmembrane transporter activity', 'low-density lipoprotein particle receptor activity', 'identical protein binding', 'signaling receptor binding'] |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | hsa04150; hsa04310; hsa04928; hsa05010; hsa05022; hsa05200; hsa05224; hsa05225; hsa05226; R-HSA-162582; R-HSA-1643685; R-HSA-195721; R-HSA-201681; R-HSA-3772470; R-HSA-4641262; R-HSA-4641263; R-HSA-4791275; R-HSA-5340588; R-HSA-5663202 |
| 5 combinations linked to LRP6 | OLI937; OLI1305; OLI938; OLI936; OLI1304 |
| 7 variants linked to LRP6 | LRP6:c.3754C>T, p.Gln1252Ter; LRP6:c.503T>G, p.Met168Arg; LRP6:c.2450C>G, p.Ser817Cys; LRP6:c.4333A>G, p.Met1445Val; LRP6:c.379T>A, p.Ser127Thr; LRP6:c.3224A>G, p.Asn1075Ser; LRP6:c.4144G>T, p.Val1382Phe |
| 2 diseases linked to LRP6 | Hypodontia; NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia |