OLR1 Chromosome 12
Oxidized low density lipoprotein receptor 1
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What This Gene Does
This gene encodes a low density lipoprotein receptor that belongs to the C-type lectin superfamily. This gene is regulated through the cyclic AMP signaling pathway. The encoded protein binds, internalizes and degrades oxidized low-density lipoprotein. This protein may be involved in the regulation of Fas-induced apoptosis. This protein may play a role as a scavenger receptor. Mutations of this gene have been associated with atherosclerosis, risk of myocardial infarction, and may modify the risk of Alzheimer's disease. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]
Gene Info
Gene Group
"Scavenger receptors|C-type lectin domain containing"
Locus Type
gene with protein product
Location
12p13.2
Ensembl
ENSG00000173391
Associated Conditions (3)
Myocardial infarction
susceptibility to
OLR1-related disorder
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS11053646 | Health Risk | Benign; risk factor | Myocardial infarction, susceptibility to, OLR1-related disorder |
| RS12316150 | Health Risk | risk factor | Myocardial infarction, susceptibility to, Myocardial infarction |