LRP1 Chromosome 12
LDL receptor related protein 1
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What This Gene Does
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]
Gene Info
Gene Group
"CD molecules|Low density lipoprotein receptors|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
12q13.3
Ensembl
ENSG00000123384
Associated Conditions (6)
Keratosis pilaris
LRP1-related disorder
Keratosis pilaris atrophicans
Developmental dysplasia of the hip 3
Global developmental delay
Atrophoderma vermiculatum
Key Variants
RS146573053
Conflicting classifications of pathogenicity
Health Risk
RS1799986
Conflicting classifications of pathogenicity
Keratosis pilaris, LRP1-related disorder, Keratosis pilaris atrophicans
Health Risk
RS193167795
Conflicting classifications of pathogenicity
Health Risk
RS201541007
Conflicting classifications of pathogenicity
Health Risk
RS34074602
Conflicting classifications of pathogenicity
Health Risk
RS369821399
Conflicting classifications of pathogenicity
Health Risk
RS375098933
Conflicting classifications of pathogenicity
Health Risk
RS2136703640
Likely pathogenic
Global developmental delay, Global developmental delay
Health Risk
RS200106514
Pathogenic
Developmental dysplasia of the hip 3, Developmental dysplasia of the hip 3
Health Risk
RS2548053933
Pathogenic
Developmental dysplasia of the hip 3, Developmental dysplasia of the hip 3
Health Risk
RS483353013
Pathogenic
Atrophoderma vermiculatum, Keratosis pilaris, Atrophoderma vermiculatum
Health Risk
RS762970763
Pathogenic
Developmental dysplasia of the hip 3, Developmental dysplasia of the hip 3
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS146573053 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1799986 | Health Risk | Conflicting classifications of pathogenicity | Keratosis pilaris, LRP1-related disorder, Keratosis pilaris atrophicans |
| RS193167795 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201541007 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS34074602 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS369821399 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS375098933 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2136703640 | Health Risk | Likely pathogenic | Global developmental delay, Global developmental delay |
| RS200106514 | Health Risk | Pathogenic | Developmental dysplasia of the hip 3, Developmental dysplasia of the hip 3 |
| RS2548053933 | Health Risk | Pathogenic | Developmental dysplasia of the hip 3, Developmental dysplasia of the hip 3 |
| RS483353013 | Health Risk | Pathogenic | Atrophoderma vermiculatum, Keratosis pilaris, Atrophoderma vermiculatum |
| RS762970763 | Health Risk | Pathogenic | Developmental dysplasia of the hip 3, Developmental dysplasia of the hip 3 |
| RS767319988 | Health Risk | Pathogenic | Developmental dysplasia of the hip 3, Developmental dysplasia of the hip 3 |