OLR1
oxidized low density lipoprotein receptor 1
Summary
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]
Known Variants24 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1050286 | 12:10,311,563 | T/C | 3 prime UTR variant | — |
| rs1050283 | 12:10,312,289 | G/A | 3 prime UTR variant | — |
| rs12316150 | 12:10,312,291 | A/T | 3 prime UTR variant | risk factor |
| rs374494106 | 12:10,312,543 | G/A | — | uncertain significance |
| rs146768121 | 12:10,312,587 | G/A | — | likely benign |
| rs1395727020 | 12:10,312,949 | T/C | — | uncertain significance |
| rs375085053 | 12:10,313,044 | T/A | — | likely benign |
| rs3736235 | 12:10,313,075 | T/C | intron variant | — |
| rs3736234 | 12:10,313,134 | G/A | intron variant | benign |
| rs3736232 | 12:10,313,358 | C/G | regulatory region variant | — |
| rs11053646 | 12:10,313,448 | C/G | missense variant | risk factor |
| rs1347145798 | 12:10,313,459 | T/C | — | uncertain significance |
| rs1299024640 | 12:10,313,521 | G/A | — | uncertain significance |
| rs184465084 | 12:10,319,302 | T/C | — | likely benign |
| rs555545113 | 12:10,319,332 | T/C | — | uncertain significance |
| rs368435897 | 12:10,319,394 | T/C | — | uncertain significance |
| rs1403128339 | 12:10,319,418 | A/G | — | uncertain significance |
| rs142675845 | 12:10,319,425 | C/T | — | uncertain significance |
| rs2497857962 | 12:10,319,428 | T/C | — | uncertain significance |
| rs765832794 | 12:10,319,475 | G/A | — | uncertain significance |
| rs148551872 | 12:10,321,756 | G/C | — | uncertain significance |
| rs1175621412 | 12:10,321,768 | T/C | — | likely benign |
| rs751951658 | 12:10,324,633 | G/A | — | uncertain significance |
| rs2742112 | 12:10,325,128 | C/T | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.