OLR1

Chr 12

oxidized low density lipoprotein receptor 1

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

NCBI Gene: 4973ENSG00000173391UniProt: 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.

Summary from RefSeq, OMIM, UniProt
Research Assistant →

Primary Disease Associations & Inheritance

{Myocardial infarction, susceptibility to}MIM #608446
1
Active trials
44
Pubs (1 yr)
37
P/LP submissions
0%
P/LP missense
0.80
LOEUF
Multiple*
Mechanism· predicted
Clinical Summary— OLR1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.01) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
37 unique Pathogenic / Likely Pathogenic· 33 VUS of 82 total submissions
💊
Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.80LOEUF
pLI 0.007
Z-score 2.13
OE 0.40 (0.22–0.80)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
0.55Z-score
OE missense 0.87 (0.75–1.01)
123 obs / 141.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.40 (0.22–0.80)
0≤0.351.4
Missense OE0.87 (0.75–1.01)
0≤0.61.4
Synonymous OE1.04
0≤1.21.6
LoF obs/exp: 6 / 14.9Missense obs/exp: 123 / 141.4Syn Z: -0.25
DN
0.83top 10%
GOF
0.73top 25%
LOF
0.1697th %ile

This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

DNprediction above median
GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

82 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic35
Likely Pathogenic2
VUS33
Likely Benign6
Benign1
35
Pathogenic
2
Likely Pathogenic
33
VUS
6
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
35
0
35
Likely Pathogenic
0
0
2
0
2
VUS
0
29
4
0
33
Likely Benign
0
4
1
1
6
Benign
0
0
1
0
1
Total03343177

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

OLR1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients