Gene Information
low density lipoprotein receptor [Source:HGNC Symbol;Acc:HGNC:6547]
LDLR variants are associated with 1 disease including homozygous familial hypercholesterolemia, with 7 documented clinical phenotypes.
The LDLR gene is associated with 1 medical condition, including:
Research has identified 7 phenotypic features associated with LDLR variants:
ClinVar contains 10 variants associated with LDLR. Below are some notable variants:
NM_000527.5(LDLR):c.68-2A>C
PathogenicVCV004528366
Review: criteria provided, single submitter
NM_000527.5(LDLR):c.1487del (p.Gly496fs)
PathogenicVCV004526913
Review: criteria provided, single submitter
NM_000527.5(LDLR):c.1187-294_1845+1200del
PathogenicVCV004526720
Review: criteria provided, single submitter
NM_000527.5(LDLR):c.2248del (p.Ser750fs)
Likely pathogenicVCV004526682
Review: no assertion criteria provided
NM_000527.5(LDLR):c.2422C>T (p.Leu808Phe)
Uncertain significanceVCV004526519
Review: criteria provided, single submitter
There are 2,700 publications about LDLR indexed in PubMed. Below are some recent papers:
Allogeneic hematopoietic cell transplantation initiates atherosclerosis in mice via CD8+ T cells.
Jorgacevic I, Shaikh H, Ali H
PMID: 41252283
•
2025 Nov 18
•
Cardiovasc Res
Clonal hematopoiesis activates pro-calcific pathways in macrophages and promotes aortic valve stenosis.
Abplanalp WT, Raddatz MA, Schuhmacher B
PMID: 41252200
•
2025 Nov 18
•
J Clin Invest
284 nm UVB Phototherapy Regulates Immunoinflammatory Responses and Improves Atherosclerotic Plaque Stability in Mice.
Ito K, Sasaki N, Krisnanda A
PMID: 41249043
•
2025 Oct 3
•
Kobe J Med Sci
REGULATION OF HDL DYSFUNCTIONALITY BY PHOSPHATIDYLETHANOLAMINE LINKS POLY-UNSATURATED FATTY ACIDS WITH ATHEROSCLEROTIC CARDIOVASCULAR DISEASES.
Taradeh M, Hardy LM, Dahik VD
PMID: 41248752
•
2025 Nov 15
•
Mol Metab
Advances in molecular regulation and function of LDLR family in viral infection.
Yao Q, Gong J, Lu H
PMID: 41244697
•
2025
•
Front Microbiol
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Trusted Data Sources
Last updated: 11/20/2025