Catalog No.
EHJ24002
Description
Genetic variation in PCSK9 has an enormous impact on LDL-C concentration in humans and both gain-of-function (GOF) and loss-of-function (LOF) PCSK9 mutations have been described. While PCSK9 LOF mutations cause hypocholesterolemia, GOF mutations are a rare cause of familial hypercholesterolemia (FH), a monogenic disease characterized by very high levels of LDL-C and premature atherosclerotic cardiovascular disease (ASCVD). PCSK9 GOF mutations are causative of FH, because the enhancement in PCSK9 function leads to increased LDLr degradation and reduced recycling to the cell surface. As a consequence, there is a reduction in LDL uptake and an increase in circulating LDL-C concentration. The best characterized PCSK9 GOF mutation is p.(Asp374Tyr) which produces a ten-fold increase in LDLr degradation by increasing the binding affinity of PCSK9 to the epidermal growth factor-like domain of LDLr. This variant was demonstrated to inhibit LDL uptake still at a concentration 25 times lower than the wild-type PCSK9.
Expression system
Mammalian Cells
Species
Homo sapiens (Human)
Protein length
Met1-Gln692 (D374Y)
Predicted molecular weight
75.30 kDa
Nature
Recombinant
Endotoxin level
Please contact with the lab for this information.
Purity
>90% as determined by SDS-PAGE.
Accession
Q8NBP7
Applications
ELISA, Immunogen, SDS-PAGE, WB, Bioactivity testing in progress
Form
Lyophilized
Storage buffer
Lyophilized from a solution in PBS pH 7.4, 1mM EDTA, 4% Trehalose, 1% Mannitol.
Reconstitution
Reconstitute in sterile water for a stock solution.A copy of datasheet will be provided with the products, please refer to it for details.
Shipping
In general, proteins are provided as lyophilized powder/frozen liquid. They are shipped out with dry ice/blue ice unless customers require otherwise.
Stability and Storage
Use a manual defrost freezer and avoid repeated freeze thaw cycles. Store at 2 to 8°C for frequent use. Store at -20 to -80°C for twelve months from the date of receipt.
Alternative Names
Proprotein convertase subtilisin/kexin type 9, Subtilisin/kexin-like protease PC9, NARC-1, PC9, Proprotein convertase 9, Neural apoptosis-regulated convertase 1, NARC1, PCSK9
Correlation between clinical classification and genetic analysis of familial hypercholesterolemia in premature coronary artery disease in a cohort of Egyptian patients., PMID:40517278
The EGR3 gene modulates CRP and VCAM-1 expression to promote the development of atherosclerosis., PMID:40513687
Proteogenomic and observational evidence implicate ANGPTL4 as a potential therapeutic target for colorectal cancer prevention., PMID:40511612
Circulating protein biomarkers and their association with vulnerable plaque characteristics - a PROSPECT II substudy., PMID:40503438
Fucosterol exerts an anti-atherosclerotic action via NF-κB and p38/Erk MAPK signaling pathways., PMID:40502621
Glucocorticoid treatment in early rheumatoid arthritis is independently associated with increased PCSK9 levels: data from a randomised controlled trial., PMID:40480650
PCSK9 inhibition mitigates vulnerable plaque formation induced by hyperhomocysteinemia through regulating lipid metabolism and inflammation., PMID:40480522
Clinically relevant dosing of miR-145 micelles curbs atherosclerosis in vivo., PMID:40480516
A multivariable cis-Mendelian randomization method robust to weak instrument bias and horizontal pleiotropy bias., PMID:40471990
ANGPTL3: A Breakthrough Target in Treatment for Dyslipidemia and Atherosclerosis., PMID:40467521
PCSK9 is upregulated and correlated with more severe disease condition but fails to predict treatment outcomes in psoriasis patients., PMID:40464661
Genetic Factors Associated With Myocardial Infarction in Saudi Arabia., PMID:40463733
Biomimetic nanocomplexes loading with evolocumab and curcumin for synergistic anti-atherosclerosis therapy in ApoE-/- mice., PMID:40462197
Estimated Theoretical Benefit of Aggressive LDL Lowering in Patients With Symptomatic Intracranial Atherosclerosis., PMID:40446174
Assessing the impact of PCSK9 and HMGCR inhibitor on reproductive endocrine diseases: A drug-target Mendelian randomization analysis., PMID:40441203
Cholesteryl Ester Transfer Protein Deficiency and Hyperalphalipoproteinemia., PMID:40436797
PCSK9 is a passenger gene in head and neck cancer with minimal pathological influence., PMID:40435597
Endothelial Nrf2 deficiency promotes atherosclerotic lesion formation by shaping a proinflammatory niche., PMID:40404122
ASGR1 inhibitors, inflammation, and heart failure: A Mendelian randomization analysis., PMID:40391737
Structural dynamics of LDL receptor interactions with E498A and R499G variants of PCSK9., PMID:40388017
An evaluation of recaticimab for the treatment of hypercholesterolemia., PMID:40380894
A pH-Sensitive NIR Fluorescent Probe as a Protagonist in the Discovery of New LC3 Ligands Facilitating the Construction of ATTECs., PMID:40375755
(-)-Oleuropein as a Novel Metastatic Castration-Resistant Prostate Cancer Progression and Recurrence Suppressor via Targeting PCSK9-LDLR Axis., PMID:40362754
Genetic Variants, Bioactive Compounds, and PCSK9 Inhibitors in Hyper-LDL-Cholesterolemia: A GWAS and In Silico Study on Cardiovascular Disease Risk., PMID:40362720
Short-term effects of PCSK-9 inhibitors on percutaneous coronary intervention in patients with acute coronary syndrome., PMID:40360221
Inhibition of PCSK9 with polypurine reverse hoogsteen hairpins: A novel gene therapy approach., PMID:40360039
Investigation of the interplay of PCSK9, cardiac dynamics, oxidative stress in coronary artery disease: case-control study., PMID:40357205
Accelerated atherosclerosis associated with immune checkpoint inhibitors: a systematic review and meta-analysis of pre-clinical studies., PMID:40354680
PCSK9 in Vascular Aging and Age-Related Diseases., PMID:40354375
RNA interference versus antibody-based PCSK9 inhibition for the prevention of cardiovascular disease: A drug-target Mendelian randomization study., PMID:40347490
Proprotein convertase subtilisin/kexin type 9 contributes to cisplatin-induced acute kidney injury by interacting with cyclase-associated protein 1 to promote megalin lysosomal degradation., PMID:40339661
Impaired CAMK4 Activity Limits Atherosclerosis and Reprograms Myelopoiesis., PMID:40336480
Combining genetic proxies of drug targets and time-to-event analyses from longitudinal observational data to identify target patient populations., PMID:40335923
PCSK9 promotes progression of anaplastic thyroid cancer through E-cadherin endocytosis., PMID:40328788
Kratom leaf extracts exert hypolipidaemic effects via the modulation of PCSK9 and LDLR pathways in HepG2 cells., PMID:40325086
Impairment of endothelial MerTK accelerates atherosclerosis development., PMID:40321244
Impact of PCSK9 inhibitors on bleeding and adverse outcomes in post-PCI patients undergoing antiplatelet therapy: A real-world cohort study., PMID:40320148
Potential of CETP inhibition in treating dyslipidemia in systemic lupus erythematosus: Novel and comprehensive evidence from clinical studies and Mendelian randomization., PMID:40315629
Prescriber Uptake and Use of Novel Lipid-Lowering Therapies., PMID:40314342
Impact of a personalized, strike early and strong approach on non-HDL-cholesterol levels and outcome in patients with acute myocardial infarction., PMID:40311694
Revisiting the role of GDF15 in atherosclerosis in mouse and human., PMID:40307459
Oral and Non-Oral Cholesterol-Lowering Drugs with PCSK9 and Other Biomolecules as Targets: Present Status and Future Prospects., PMID:40305153
Oral PCSK9 Inhibitors: Will They Work?, PMID:40304930
Association between lipid-lowering drug targets and the risk of cystic kidney disease: a drug-target Mendelian randomization analysis., PMID:40289090
A Novel Screening Approach for Familial Hypercholesterolemia: A Genetic Study on Patients Detected Using Preexisting Centralized Analytics., PMID:40283609
Elucidation of Mechanism of Action in Drug Invention: Using Stable Isotope Tracers to Unravel Biochemical Kinetics., PMID:40281645
Gastrodin attenuates hypercholesterolaemia through regulating the PCSK9/LDLR signalling pathway by suppressing HNF-1α and activating FoxO3a., PMID:40279963
Association of APOB (rs515135) and PCSK9 (rs505151) gene polymorphisms with CAD in the Indian population., PMID:40270278
Hepatoprotective and Antiatherosclerotic Effects of Oleoylethanolamide-Based Dietary Supplement in Dietary-Induced Obesity in Mice., PMID:40265441
Recent Advances in the Management of Dyslipidemia: A Systematic Review., PMID:40264627
For research use only. Not for human or drug use.
