LDLR
Metabolic System · Cholesterol & Lipoprotein Metabolism
How does the body remove LDL cholesterol from the blood?
LDLR makes a receptor that captures LDL particles and brings them into cells. Some pathogenic variants reduce this clearance and can contribute to inherited high cholesterol.
- Common Gene Name
- low density lipoprotein receptor
- NCBI Gene ID
- 3949
- Chromosome
- 19
Clinical Evidence Status
Actionability report availableEstablished disease relationshipTumor or drug-label biomarker context
These labels describe available evidence about a gene. They do not classify your variant or recommend a treatment.
Answer Sources
Explore supporting evidence (7 records)
| Condition or drug | Evidence | Grade / status | Context | Source |
|---|---|---|---|---|
| hypercholesterolemia, familial, 1 | ClinGen gene-disease validity | Definitive | Semidominant | View source 2021-02-24 |
| Familial hypercholesterolemia | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2020-01 | |
| Homozygous Familial Hypercholesterolemia | ClinGen clinical actionability | Scored report; not a validity grade | Adult | View source 2023-05-03 |
| Heterozygous Familial Hypercholesterolemia | ClinGen clinical actionability | Scored report; not a validity grade | Adult | View source 2023-06-28 |
| Heterozygous Familial Hypercholesterolemia | ClinGen clinical actionability | Scored report; not a validity grade | Pediatric | View source 2023-05-03 |
| Homozygous Familial Hypercholesterolemia | ClinGen clinical actionability | Scored report; not a validity grade | Pediatric | View source 2023-05-03 |
| Evinacumab-dgnb (1) | FDA labeling biomarker | Label mentions biomarker; actionability not inferred | Endocrinology | View source |
Source snapshot: 2026-09-09. Consumer text updated: 2026-09-10. Source dates describe the cited records, not a new clinical review.
← Back to Metabolic System