LRP5 LDL receptor related protein 5
Gene ID: 4041, updated on 2-Nov-2024Gene type: protein coding
Also known as: HBM; LR3; OPS; EVR1; EVR4; LRP7; OPPG; BMND1; LRP-5; LRP-7; OPTA1; PCLD4; VBCH2
- See all available tests in GTR for this gene
- Go to complete Gene record for LRP5
- Go to Variation Viewer for LRP5 variants
Summary
This gene encodes a transmembrane low-density lipoprotein receptor that binds and internalizes ligands in the process of receptor-mediated endocytosis. This protein also acts as a co-receptor with Frizzled protein family members for transducing signals by Wnt proteins and was originally cloned on the basis of its association with type 1 diabetes mellitus in humans. This protein plays a key role in skeletal homeostasis and many bone density related diseases are caused by mutations in this gene. Mutations in this gene also cause familial exudative vitreoretinopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Autosomal dominant osteopetrosis 1 | not available |
| Bone mineral density quantitative trait locus 1 | not available |
| Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study. GeneReviews: Not available | |
| Exudative vitreoretinopathy 1 | not available |
| Exudative vitreoretinopathy 4 | not available |
| Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. GeneReviews: Not available | |
| Multistage genome-wide association meta-analyses identified two new loci for bone mineral density. GeneReviews: Not available | |
| Osteoporosis with pseudoglioma | not available |
| Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment. GeneReviews: Not available | |
| Polycystic liver disease 4 with or without kidney cysts | not available |
| Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. GeneReviews: Not available | |
| Worth disease | not available |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency Little evidence for dosage pathogenicity (Last evaluated 2024-04-09) ClinGen Genome Curation PagePubMedTriplosensitivity No evidence available (Last evaluated 2024-04-09) ClinGen Genome Curation Page |
Genomic context
- Location:
- 11q13.2
- Sequence:
- Chromosome: 11; NC_000011.10 (68298412..68449275)
- Total number of exons:
- 28
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for LRP5 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- LRP5 @ LOVD
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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