LRP1 LDL receptor related protein 1
Gene ID: 4035, updated on 29-Oct-2024Gene type: protein coding
Also known as: APR; KPA; LRP; A2MR; CD91; DDH3; APOER; LRP1A; TGFBR5; IGFBP3R; IGFBP-3R; IGFBP3R1
- See all available tests in GTR for this gene
- Go to complete Gene record for LRP1
- Go to Variation Viewer for LRP1 variants
Summary
This gene encodes a member of the low-density lipoprotein receptor family of proteins. The encoded preproprotein is proteolytically processed by furin to generate 515 kDa and 85 kDa subunits that form the mature receptor (PMID: 8546712). This receptor is involved in several cellular processes, including intracellular signaling, lipid homeostasis, and clearance of apoptotic cells. In addition, the encoded protein is necessary for the alpha 2-macroglobulin-mediated clearance of secreted amyloid precursor protein and beta-amyloid, the main component of amyloid plaques found in Alzheimer patients. Expression of this gene decreases with age and has been found to be lower than controls in brain tissue from Alzheimer's disease patients. [provided by RefSeq, Oct 2015]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1. GeneReviews: Not available | |
| Biological insights from 108 schizophrenia-associated genetic loci. GeneReviews: Not available | |
| Biological, clinical and population relevance of 95 loci for blood lipids. GeneReviews: Not available | |
| Developmental dysplasia of the hip 3 | not available |
| Discovery and refinement of loci associated with lipid levels. GeneReviews: Not available | |
| Genome-wide association analysis identifies susceptibility loci for migraine without aura. GeneReviews: Not available | |
| Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. GeneReviews: Not available | |
| Genome-wide association study reveals three susceptibility loci for common migraine in the general population. GeneReviews: Not available | |
| Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. GeneReviews: Not available | |
| Genome-wide meta-analysis identifies new susceptibility loci for migraine. GeneReviews: Not available | |
| Keratosis pilaris atrophicans | See labs |
Genomic context
- Location:
- 12q13.3
- Sequence:
- Chromosome: 12; NC_000012.12 (57128483..57213361)
- Total number of exons:
- 89
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for LRP1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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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