OLR1

Chr 12

oxidized low density lipoprotein receptor 1

Also known as: CLEC8A, LOX1, LOXIN, SCARE1, SLOX1

NCBI Gene: 4973 ENSG00000173391 UniProt: P78380

The protein functions as a scavenger receptor that binds, internalizes and degrades oxidized low-density lipoprotein and also serves as a receptor for heat shock proteins, advanced glycation end products, and bacterial components. Mutations cause susceptibility to myocardial infarction and may modify risk for atherosclerosis and Alzheimer's disease. The gene shows low constraint to loss-of-function mutations, and inheritance pattern information is not available from the provided data.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.80

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)