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LRP1 LDL receptor related protein 1

Gene ID: 4035, updated on 18-Sep-2018
Also known as: APR; KPA; LRP; A2MR; CD91; APOER; LRP1A; TGFBR5; IGFBP3R; IGFBP-3R; IGFBP3R1

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

DescriptionTests
Keratosis pilaris
MedGen: C0263383OMIM: 604093GeneReviews: Not available
not available

Genomic context

Location:
12q13.3
Sequence:
Chromosome: 12; NC_000012.12 (57128401..57213377)
Total number of exons:
90

Links

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