Biotinylated Human LDL R Protein (C-Avi-6His)
Beta LifeScience
SKU/CAT #: BL-1849NP
BL-1849NP: Greater than 95% as determined by reducing SDS-PAGE. (QC verified)
Biotinylated Human LDL R Protein (C-Avi-6His)
Beta LifeScience
SKU/CAT #: BL-1849NP
Our products are highly customizable to meet your specific needs. You can choose options such as endotoxin removal, liquid or lyophilized forms, preferred tags, and the desired functional sequence range for proteins. Submitting a written inquiry expedites the quoting process.
Product Overview
| Description | Biotinylated Recombinant Human Low-Density Lipoprotein Receptor is produced by our Mammalian expression system and the target gene encoding Ala22-Arg788 is expressed with a Avi, 6His tag at the C-terminus. |
| Accession | P01130 |
| Synonym | Low-Density Lipoprotein Receptor; LDL Receptor; LDLR |
| Gene Background | Low-density lipoprotein receptor 9 (LDL receptor) is a single-pass type I membrane protein which belongs to the LDLR family. It contains 3 EGF-like domains, 7 LDL-receptor class A domains, and 6 LDL-receptor class B repeats. This protein binds 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. In case of HIV-1 infection, it functions as a receptor for extracellular Tat in neurons, mediating its internalization in uninfected cells. Defects in LDLR will result in familial hypercholesterolemia. |
| Molecular Mass | 88.4 KDa |
| Apmol Mass | 95-140 KDa, reducing conditions |
| Formulation | Lyophilized from a 0.2 μm filtered solution of 50mM HEPES, 150mM NaCl, pH 7.4. |
| Endotoxin | Less than 0.1 ng/µg (1 EU/µg) as determined by LAL test. |
| Purity | Greater than 95% as determined by reducing SDS-PAGE. (QC verified) |
| Biological Activity | Biologically active. Please contact us to obtain bioactivity data. |
| Reconstitution | Always centrifuge tubes before opening. Do not mix by vortex or pipetting. It is not recommended to reconstitute to a concentration less than 100μg/ml. Dissolve the lyophilized protein in distilled water. Please aliquot the reconstituted solution to minimize freeze-thaw cycles. |
| Storage | Lyophilized protein should be stored at ≤ -20°C, stable for one year after receipt. Reconstituted protein solution can be stored at 2-8°C for 2-7 days. Aliquots of reconstituted samples are stable at ≤ -20°C for 3 months. |
| Shipping | The product is shipped at ambient temperature. Upon receipt, store it immediately at the temperature listed below. |
| Usage | For Research Use Only |
Target Details
| Target Function | Binds 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.; (Microbial infection) Acts as a receptor for hepatitis C virus in hepatocytes, but not through a direct interaction with viral proteins.; (Microbial infection) Acts as a receptor for Vesicular stomatitis virus.; (Microbial infection) In case of HIV-1 infection, may function as a receptor for extracellular Tat in neurons, mediating its internalization in uninfected cells. |
| Subcellular Location | Cell membrane; Single-pass type I membrane protein. Membrane, clathrin-coated pit. Golgi apparatus. Early endosome. Late endosome. Lysosome. |
| Protein Families | LDLR family |
| Database References | |
| Associated Diseases | Familial hypercholesterolemia (FH) |
Gene Functions References
- HepG2 cell lines transfected with siRNA directed to PCSK9 were challenged with Hcy, homocysteine thiolactone (HTL), testosterone, 5alpha-dihydroxytestosterone (5alpha-DHT), or estradiol for 24h, leading to an overt expression of PCSK9 and down-regulated expression of LDLR. PMID: 29660344
- A randomized trial and novel SPR technique identifies altered lipoprotein-LDL receptor binding as a mechanism underlying elevated LDL-cholesterol in APOE4s PMID: 28276521
- Authors performed an analysis of public databases and literature for every variant published associated with FH, in the genes LDLR, APOB, and PCSK9. PMID: 29261184
- In this review we present a broad spectrum of functionally characterized missense LDLr variants identified in patients with Familial hypercholesterolemia (FH), which is mandatory for a definite diagnosis of FH. PMID: 29874871
- The frequency of known mutations in the LDLR gene in this cohort of patients was markedly low compared to frequencies reported in other populations. PMID: 29720182
- This study adds 9 novel variations and 11 recurrent variations to the spectrum of LDLR gene mutations in Indian population. The in silico analysis for all the variations detected in this study were done to predict the probabilistic effect in pathogenicity of Familial Hypercholesterolemia. PMID: 29269200
- Data suggest maternal glycemic response during pregnancy is associated with lower DNA methylation of 4 CpG sites within PDE4B gene in placenta (collected after normal-weight term birth); 3 additional CpG sites are differentially methylated relative to maternal glucose response within TNFRSF1B, LDLR, and BLM genes. (PDE4B = phosphodiesterase-4B; TNFRSF1B = TNF receptor superfamily member-1B; BLM = Bloom syndrome protein) PMID: 29752424
- Vesicular stomatitis virus G protein complex with two distinct cysteine-rich domains (CR2 and CR3) of LDL-R PMID: 29531262
- Report familial hypercholesterolemia patients with multiple mutations at the LDLR gene presenting with more severe phenotype than single mutants. PMID: 28645073
- LDLr in the activated PSFs may become a novel target receptor for controlled drug delivery. PMID: 28686975
- Systematic mutation of the AREs (ARE1-3) in the LDLR 3'UTR and expression of each mutant coupled to a luciferase reporter in Huh7 cells demonstrated that ARE1 is required for rapid LDLR mRNA decay and 5-AzaC-induced mRNA stabilization via the IRE1alpha-EGFR-ERK1/2 signaling cascade. PMID: 29208426
- The genotype-risk associations were examined between LDLR (rs885765, rs688, rs5925, rs55903358, rs5742911) and obesity-related phenotypes and other comorbidities in Sucre, Venezuela. The association between LDLR rs5742911 ancestral genotype A/A and high risk condition related to HDL-cholesterol was the only one found to be significant:(A/A: 41.50+/-14.81 mg/dL; A/G: 45.00+/-12.07 mg/dL; G/G: 47.17+/-9.43 mg/dL). PMID: 27622441
- Heparan sulfate proteoglycans binding is required for PCSK9-induced LDLR degradation. PMID: 28894089
- membrane LDLR was reduced and lost the ability to take up LDL. Our data also expand the spectrum of known LDLR mutations PMID: 29228028
- Liposomes modified with both apolipoproteins A-I and E were internalized in HepG2 cells in FBS-depleted culture medium at the same levels as unmodified liposomes in FBS-containing culture medium, which indicates that apolipoproteins A-I and E were the major serum components involved in liposomal binding to SR-B1 or LDLR (or both). PMID: 28888368
- These findings suggest that LDLR rs2738464 may affect the affinity of miR-330 binding to the LDLR 3'-UTR, thus regulating LDLR expression and contributing to clear cell renal cell carcinoma risk PMID: 29029037
- the p.(Gly20Arg) change in the LDL receptor, previously described as disease causing, has no detrimental effect on protein expression or LDL particle binding PMID: 27175606
- Twenty mutations including synonymous, missense, and intronic mutations were identified in the LDLR coding region of 32 Brazilian patients with familial hypercholesterolemia. PMID: 28873201
- Results indicate the importance of the LDL receptor (LDLR) in the growth of triple-negative and HER2-overexpressing breast cancers in the setting of elevated circulating LDL cholesterol (LDL-C). PMID: 28759039
- Identify LDLR, APOB and PCSK9 novel mutations causing familial hypercholesterolemia in the central south region of China. PMID: 28235710
- This study updates the LDLR variant database and identifies a number of reported variants of unknown significance where additional family and in vitro studies will be required to confirm or refute their pathogenicity. PMID: 27821657
- Data indicate that proteasomal degradation, lysosomal degradation, autophagy or ectodomain cleavage were not the underlying mechanism for degradation of these mutant LDLRs. PMID: 28334946
- PCSK9 inhibits lipoprotein(a) clearance through the LDLR. PMID: 28750079
- 4 siblings found to be compound heterozygotes for 2 LDLR gene mutations but showing a different phenotype severity PMID: 27578127
- LDLR is a relevant receptor for CNS drug delivery via receptor-mediated transcytosis and that the peptide vectors we developed have the potential to transport drugs PMID: 28108572
- Higher Gleason grade was associated with lower LDLR expression, lower SOAT1 and higher SQLE expression. Besides high SQLE expression, cancers that became lethal despite primary treatment were characterized by low LDLR expression (odds ratio for highest versus lowest quintile, 0.37; 95% CI 0.18-0.76) and by low SOAT1 expression (odds ratio, 0.41; 95% CI 0.21-0.83). PMID: 28595267
- LDLR associated with Familial Hypercholesterolemia and Polygenic Hypercholesterolemia in patients with Acute Coronary Syndrome , age /=160 mg/dl. PMID: 28958330
- Chinese W483X mutation in the low-density lipoprotein-receptor gene in young patients with homozygous familial hypercholesterolemia PMID: 27206941
- Proprotein convertase subtilisin/kexin 9 V4I variant with LDLR mutations modifies the phenotype of familial hypercholesterolemia PMID: 27206942
- both LDLR rs6511720 and rs57217136 are functional variants; both these minor alleles create enhancer-binding protein sites for transcription factors and may contribute to increased LDLR expression, which is consequently associated with reduced LDL-C levels and 12% lower coronary heart disease risk PMID: 27973560
- Using assays that measured conformational change, acid-dependent lipoprotein release, LDLR recycling, and net lipoprotein uptake, we show that H635 plays important roles in acid-dependent conformational change and lipoprotein release, while H264, H306, and H439 play ancillary roles in the response of the LDLR to acidic pH PMID: 27895090
- these studies support that reductions in Lp(a) with PCSK9 inhibition are partly due to increased LDLR-mediated uptake. In most situations, Lp(a) appears to compete poorly with LDL for LDLR binding and internalization, but when LDLR expression is increased with evolocumab, particularly in the setting of low circulating LDL, Lp(a) is reduced. PMID: 27102113
- Genetic etiology of familial hypercholesterolemia was confirmed in 103 probands following analysis of the whole LDLR gene in a Slovak population. PMID: 27824480
- Heterozygous Familial Hypercholesterolemia patients with the null low-density lipoprotein (LDL) receptor DEL15Kb mutation develop severe Aortic Calcifications in an age- and gene dosage-dependent manner. PMID: 28449836
- hepatocytes clear lipopolysaccharides from the circulation via the LDLR. PMID: 27171436
- the zymogen form of PCSK9 adopts a structure that is distinct from the processed form and is unable to bind a mimetic peptide based on the EGF-A domain of the LDLr. PMID: 27534510
- PCSK9 C-terminal domain (CTD) was found to be essential to induce LDLR degradation both upon its overexpression in cells or via the extracellular pathway. PMID: 27280970
- LDLR mutation is associated in children and adolescent with familial hypercholesterolemia. PMID: 28161202
- Even though LDLR-R410S and LDLR-WT were similar in levels of cell surface and total receptor and bound equally well to LDL or extracellular PCSK9, the LDLR-R410S was resistant to exogenous PCSK9-mediated degradation in endosomes/lysosomes and showed reduced LDL internalization and degradation relative to LDLR-WT. PMID: 27998977
- study provides the first evidence that GPC3 can modulate the PCSK9 extracellular activity as a competitive binding partner to the LDLR in HepG2 cells. PMID: 27758865
- ox-LDL play a role in the pathogenesis of AMD by NLRP3 inflammasome activation. Suppression of NLRP3 inflammasome activation could attenuate RPE degeneration and AMD progression. PMID: 27607416
- Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) Single Domain Antibodies Are Potent Inhibitors of Low Density Lipoprotein Receptor Degradation. PMID: 27284008
- This study demonstrated that IL-2 and IL-10 were related to gene polymorphisms of LDL-R, which might be involved in the development and progress of hypercholesterolemia. PMID: 27121486
- Lipoprotein profiles get improved by liver-directed gene transfer of human LDLR gene in hypercholesterolaemia mice. PMID: 27350674
- Multiple novel LDLR and ApoB mutations have been identified in a-United Kingdom-based cohort with familial hypercholesterolemia. PMID: 26748104
- Mutations in LDLR is associated with coronary artery disease. PMID: 26927322
- LDLR A(+)A(+) genotype, ApoB X(+) allele and ApoE E4 allele increased the risk of premature coronary artery disease by 1.8, 2.1 and 12.1 respectively. PMID: 27236033
- The TT genotype of rs688 in the LDLR gene was not found to be associated with elevated levels of total cholesterol or LDL-C PMID: 25601895
- Report increased intestinal cholesterol absorption and elevated serum cholesterol in families with primary hypercholesterolemia without mutations in LDLR. PMID: 26802983
- We have used atomistic simulations to explore the complete SNP mutational space (227 mutants) of the LA5 repeat, the key domain for interacting with LDL that is coded in the exon concentrating the highest number of mutations. PMID: 26755827
