LRP6 Chromosome 12
LDL receptor related protein 6
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What This Gene Does
This gene encodes a member of the low density lipoprotein (LDL) receptor gene family. LDL receptors are transmembrane cell surface proteins involved in receptor-mediated endocytosis of lipoprotein and protein ligands. The protein encoded by this gene functions as a receptor or, with Frizzled, a co-receptor for Wnt and thereby transmits the canonical Wnt/beta-catenin signaling cascade. Through its interaction with the Wnt/beta-catenin signaling cascade this gene plays a role in the regulation of cell differentiation, proliferation, and migration and the development of many cancer types. This protein undergoes gamma-secretase dependent RIP- (regulated intramembrane proteolysis) processing but the precise locations of the cleavage sites have not been determined.[provided by RefSeq, Dec 2009]
Gene Info
Gene Group
Low density lipoprotein receptors
Locus Type
gene with protein product
Location
12p13.2
Ensembl
ENSG00000070018
Associated Conditions (10)
Inborn genetic diseases
Coronary artery disease
autosomal dominant 2
Tooth agenesis
selective
7
LRP6-related disorder
Autosomal dominant polycystic liver disease
Oligodontia
Orofacial cleft
Key Variants
RS138127286
Conflicting classifications of pathogenicity
Inborn genetic diseases, Coronary artery disease, autosomal dominant 2
Health Risk
RS138911001
Conflicting classifications of pathogenicity
LRP6-related disorder, Inborn genetic diseases, LRP6-related disorder
Health Risk
RS139480047
Conflicting classifications of pathogenicity
Inborn genetic diseases, LRP6-related disorder, Inborn genetic diseases
Health Risk
RS140182370
Conflicting classifications of pathogenicity
Autosomal dominant polycystic liver disease, Inborn genetic diseases, Autosomal dominant polycystic liver disease
Health Risk
RS144346961
Conflicting classifications of pathogenicity
LRP6-related disorder, Inborn genetic diseases, Coronary artery disease
Health Risk
RS145431655
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS146407496
Conflicting classifications of pathogenicity
LRP6-related disorder, Inborn genetic diseases, LRP6-related disorder
Health Risk
RS188649737
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS199693693
Conflicting classifications of pathogenicity
LRP6-related disorder, LRP6-related disorder
Health Risk
RS560813860
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS751325508
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS764620253
Conflicting classifications of pathogenicity
Health Risk
All Variants (67)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2498879920 | Health Risk | Pathogenic | Oligodontia, Tooth agenesis, selective |
| RS2498956114 | Health Risk | Pathogenic | — |
| RS2498957462 | Health Risk | Pathogenic | — |
| RS2498979360 | Health Risk | Pathogenic | — |
| RS2499322515 | Health Risk | Pathogenic | — |
| RS374598321 | Health Risk | Pathogenic | Tooth agenesis, selective, 7 |
| RS745688776 | Health Risk | Pathogenic | — |
| RS750594279 | Health Risk | Pathogenic | — |
| RS751994990 | Health Risk | Pathogenic | — |
| RS761704205 | Health Risk | Pathogenic | — |
| RS765274952 | Health Risk | Pathogenic | — |
| RS864309647 | Health Risk | Pathogenic | Tooth agenesis, selective, 7 |
| RS864309649 | Health Risk | Pathogenic | Tooth agenesis, selective, 7 |
| RS869320635 | Health Risk | Pathogenic | Orofacial cleft, Tooth agenesis, Orofacial cleft |
| RS869320636 | Health Risk | Pathogenic | Tooth agenesis, selective, 7 |
| RS1565611848 | Health Risk | Pathogenic/Likely pathogenic | Tooth agenesis, selective, 7 |
| RS1863335460 | Health Risk | Pathogenic/Likely pathogenic | Tooth agenesis, selective, 7 |