Binds low density lipoprotein /LDL, the major cholesterol-carrying lipoprotein of plasma, and transports it into cells by endocytosis. In order to be internalized, the receptor-ligand complexes must first cluster into clathrin-coated pits. Forms a ternary complex with PGRMC1 and TMEM97 receptors which increases LDLR-mediated LDL internalization (PubMed:30443021)
Interacts (via NPXY motif) with DAB2 (via PID domain); the interaction is impaired by tyrosine phosphorylation of the NPXY motif (By similarity). Interacts (via NPXY motif) with LDLRAP1 (via PID domain) (PubMed:12221107, PubMed:22509010). Interacts with ARRB1 (PubMed:12944399).
Interacts with SNX17 (PubMed:14739284). Interacts with the full-length immature form of PCSK9 (via C-terminus) (PubMed:17461796, PubMed:21149300). Interacts with PGRMC1 and TMEM97; the interaction increases LDL internalization (PubMed:30443021)
(Microbial infection) Interacts with C.difficile toxin TcdA, suggesting that it may contribute to TcdA toxin entry into cells
(Microbial infection) Interacts with vesicular stomatitis virus glycoprotein
(Microbial infection) Interacts with Crimean-Congo hemorrhagic fever virus (CCHFV) glycoprotein C
(Microbial infection) Interacts with Getah virus (GETV) E2-E1 spike protein complex
(Microbial infection) May interact with HIV-1 Tat
The NPXY motif mediates the interaction with the clathrin adapter DAB2 and with LDLRAP1 which are involved in receptor internalization. A few residues outside the motif also play a role in the interaction
A form of hypercholesterolemia, a disorder of lipoprotein metabolism characterized by elevated serum low-density lipoprotein (LDL) cholesterol levels, which result in excess deposition of cholesterol in tissues and leads to xanthelasma, xanthomas, accelerated atherosclerosis and increased risk of premature coronary heart disease. FHCL1 inheritance is autosomal dominant.
No mutation information available.
Genes with an experimentally identified or computationally predicted synthetic-lethal relationship to LDLR, aggregated across our SSL data sources. Click any partner node to view that gene’s page.
Nodes and edges are coloured by the SSL data source. Partners appearing in more than one source are shown in grey.
Total Trials Found: 4
| NCT ID | Condition | Brief Title | Phase | Status |
|---|---|---|---|---|
| NCT03403374 | Homozygous Familial Hypercholesterolemia HoFH | Safety and Tolerability of Repatha® (Evolocumab) in Indian Participants With Homozygous Familial Hypercholesterolemia | PHASE4 | COMPLETED |
| NCT02392559 | Heterozygous Familial Hypercholesterolemia | Trial Assessing Efficacy, Safety and Tolerability of Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) Inhibition in Paediatric Subjects With Genetic Low-Density Lipoprotein (LDL) Disorders | PHASE3 | COMPLETED |
| NCT02624869 | Familial Hypercholesterolemia | Safety, Tolerability and Efficacy of Evolocumab (AMG 145) in Children With Inherited Elevated Low-density Lipoprotein Cholesterol (Familial Hypercholesterolemia) | PHASE3 | COMPLETED |
| NCT03900169 | Familial Hypercholesterolemia | Familial Hypercolerstremia as Risk Factor in Stemi Patient Who Underwent Ppci | N/A | UNKNOWN |
| NCT01783405 | Familial Hypercholesterolemia | Cardiovascular Disease in FH Heterozygous | N/A | UNKNOWN |
| NCT01763918 | Hyperlipidemia | Reduction of LDL-C With PCSK9 Inhibition in Heterozygous Familial Hypercholesterolemia Disorder Study-2 | PHASE3 | COMPLETED |
| NCT05694260 | Hypercholesterolemia | A Clinical Study in Children With Heterozygous Familial Hypercholesterolemia (HeFH) Aged 6 to 17 Treated Once Daily With Bempedoic Acid Oral Dosing (CLEAR Path 1) | PHASE2 | COMPLETED |
| NCT06555120 | Hypercholesterolemia, Familial | Screening for Familial Hypercholesterolemia in Children | NA | RECRUITING |
| NCT02326220 | Heterozygous Familial Hypercholesterolemia | Study of Alirocumab (REGN727/SAR236553) in Patients With Heterozygous Familial Hypercholesterolemia (HeFH) Undergoing Low-density Lipoprotein (LDL) Apheresis Therapy | PHASE3 | COMPLETED |
| NCT04722068 | Hypercholesterolemia, Familial | Regeneron 1331 Kinetics Sub-Study HoFH | NA | COMPLETED |