LDLR low density lipoprotein receptor
Gene ID: 3949, updated on 10-Oct-2024Gene type: protein coding
Also known as: FH; FHC; FHCL1; LDLCQ2
- See all available tests in GTR for this gene
- Go to complete Gene record for LDLR
- Go to Variation Viewer for LDLR variants
Summary
The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. The encoded protein is normally bound at the cell membrane, where it binds low density lipoprotein/cholesterol and is taken into the cell. Lysosomes release the cholesterol, which is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A variant in LDLR is associated with abdominal aortic aneurysm. GeneReviews: Not available | |
| Biological, clinical and population relevance of 95 loci for blood lipids. GeneReviews: Not available | |
| Common variants at 30 loci contribute to polygenic dyslipidemia. GeneReviews: Not available | |
| Discovery and refinement of loci associated with lipid levels. GeneReviews: Not available | |
| Eight genetic loci associated with variation in lipoprotein-associated phospholipase A2 mass and activity and coronary heart disease: meta-analysis of genome-wide association studies from five community-based studies. GeneReviews: Not available | |
| Familial hypercholesterolemia MedGen: C0020445GeneReviews: Familial Hypercholesterolemia | See labs |
| Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis. GeneReviews: Not available | |
| Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits. GeneReviews: Not available | |
| Genetic variants influencing circulating lipid levels and risk of coronary artery disease. GeneReviews: Not available | |
| Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. GeneReviews: Not available | |
| Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. GeneReviews: Not available | |
| Genome-wide association study identifies multiple loci influencing human serum metabolite levels. GeneReviews: Not available | |
| Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. GeneReviews: Not available | |
| Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations. GeneReviews: Not available | |
| Hypercholesterolemia, familial, 1 | See labs |
| Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. GeneReviews: Not available | |
| Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. GeneReviews: Not available | |
| Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. GeneReviews: Not available | |
| Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque. GeneReviews: Not available | |
| Newly identified loci that influence lipid concentrations and risk of coronary artery disease. GeneReviews: Not available | |
| Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis. GeneReviews: Not available | |
| Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. GeneReviews: Not available | |
| Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2021-10-27) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2021-10-27) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 19p13.2
- Sequence:
- Chromosome: 19; NC_000019.10 (11089463..11133820)
- Total number of exons:
- 19
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for LDLR variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- LDLR-LOVD, British Heart Foundation, Department of Cardiovascular Genetics
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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