Harmonizome 3.0

low density lipoprotein receptor

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]

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term ldlr in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

From Pathway Commons Protein-Protein Interactions

interacting proteins for LDLR from the Pathway Commons Protein-Protein Interactions dataset.

From LINCS L1000 CMAP CRISPR Knockout Consensus Signatures

genes differentially expressed following the LDLR gene perturbation from the LINCS L1000 CMAP CRISPR Knockout Consensus Signatures dataset.

From CM4AI KOLF21J CRISPRi Gene Perturbation Atlas

genes differentially expressed following the LDLR gene perturbation from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the LDLR class B repeat protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From OMIM Gene-Disease Associations

genes associated with the {hypercholesterolemia, familial, due to ldlr defect, modifier of} phenotype from the curated OMIM Gene-Disease Associations dataset.

From WikiPathways Pathways 2014

proteins participating in the PCSK9-mediated LDLR degradation(Homo sapiens) pathway from the WikiPathways Pathways 2014 dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Ldlr Mutation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the PCSK9-LDLR complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the PCSK9-LDLR complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.