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Validated All-in-One™ qPCR Primer for LDLR(NM_000527.4) Search again
Product ID:
HQP010577
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
FH, FHC, FHCL1, LDLCQ2
Gene Description:
low density lipoprotein receptor
Target Gene Accession:
NM_000527.4(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Validated result:
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| A | B |
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Each All-in-One™ qPCR Primer is experimentally validated to yield a single dissociation curve peak and to generate a single amplification of the correct size for the targeted gene. A cDNA Pool, containing reverse transcript products of 8 different human tissue total RNA(Liver, Testis,Muscle,Thyroid,Brain,Spleen,Stomach,Small Intestine)),was used as the qPCR validation template. qPCR was performed using 0.2 µM primer with 2XAll-in-One™ qPCR Mix (Catalog#: QP001,QP002,QP004,QP005). Reactions were incubated for 10min. at 95°C, followed by 40 cycles of 95°C for 10 sec.; 60°C, 20 sec. and 72°C, 15sec. using Bio-Rad iQ5™ Instrument. At the end of the last cycle, temperature was increased from 72 to 95°C to produce a melting curve. Panel A: Validated Result for Amplification Curve; Panel B: Validated Result for Melting Curve. |
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Summary
The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. Low density lipoprotein (LDL) is normally bound at the cell membrane and taken into the cell ending up in lysosomes where the protein is degraded and the cholesterol 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.
Gene References into function
- mutations in German patients with familial hypercholesterolemia
- Nineteen mutations were novel: two nonsense, five missense, six nucleotide(s) insertions and six nucleotide(s) deletions.
- mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent
- novel mutations in patients with familial hypercholesterolemia in Spain
- HDL cholesterol levels in patients with molecularly defined familial hypercholesterolemia. LDL receptor gene mutation (81T>G, 858C>A, 1285G>A, 1646G>A, and 1775G>A,) did not significantly influence HDL cholesterol levels.
- Eight novel mutations and functional impairments are identified in familial hypercholesterolemia in the north of Japan.
- Review. The proposed association between apoB secretion and FH may, however, be a function of the class of LDL receptor defect.
- LDLR mutations in 350 cases of FH revealed 34 missense, 10 nonsense, 18 frameshift, 2 inframe, 10 splice, and 2 promoter mutations and 10 rearrangements.
- Molecular basis of familial hypercholesterolemia in Brazil: Identification of seven novel LDLR gene mutations
- Defective LDL receptors give rise to a phenotype of elevated LDL cholesterol. Disturbances in IDL metabolism provide the basis for understanding why FDB is less severe than FH. An apoB-LDL receptor interaction is important in the IDL to LDL conversion.
- Critical role of diacylglycerol- and phospholipid-regulated protein kinase C epsilon in induction of low-density lipoprotein receptor transcription in response to depletion of cholesterol.
- Influence of an asparagine to lysine mutation at amino acid 3516 of apolipoprotein B on low-density lipoprotein receptor binding.
- apoE binds to the LDL receptor by interacting with more than one of the receptor ligand-binding repeats.
- human rhinovirus serotype 1A (HRV1A)does not bind to the LDL receptor
- bile acids affect gene expression via a MAPK cascade-mediated stabilization of mRNA
- ARH functions as an adaptor protein that couples LDLR to the endocytic machinery
- Egr1 is the oncostatin M-induced transcription factor that binds to the SIRE sequence of the LDLR promoter
- Two novel missense mutations in the LDL-R gene causing FH were found in two unrelated families from central and southern Tunisia.
- Double mutant allele was founded in 10 out of 458 unrelated patients and not all carriers of the double mutant allele develop hypercholesterolemia.
- crystal structure of the extracellular portion of LDL-R at pH = 5.3 and at 3.7 A resolution; this structure should represent the conformation of LDL-R adopted in endosomes
- restoration of function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1
- A novel mutation of LDLR gene was reported. This mutation may severely affect the function of LDLR.
- productive LDL-R folding in a cell is not vectorial but is mostly posttranslational, and involves transient long-range non-native disulfide bonds that are isomerized into native short-range cysteine pairs
- fatty acids and rosiglitazone directly stimulate transcription of the LRP gene through activation of PPARgamma and increase functional LRP expression.
- pp90RSK- and protein kinase C-dependent pathway regulates p42/44MAPK-induced LDL receptor transcription in HepG2 cells.
- Deletion in low-density lipoprotein receptor gene is associated with severe familial hypercholesterolemia
- Insulin plays an important role in the in vivo expression of LDL receptors on monocyte cell surface.
- mutation spectrum of the LDLR gene among patients with familial hypercholesterolemia in Morocco
- a new mutation is found, in which a serine residue was replaced by a cysteine at amino acid position 305 (S305C)
- The allelic distribution of the (TA)n polymorphism was significantly different between migraine without aura (MO) and both controls and migraine with aura (MA).
- data presented raise the possibility that the -175g-->t polymorphism in the promoter region of the LDLR gene may have subtle effects that become clinically important within certain genetic and/or environmental contexts
- study provides strong evidence that early growth response 1 regulates low density lipoprotein receptor transcription via a novel mechanism of protein-protein interaction with CCAAT enhancer-binding protein beta
- Doubling transfected human Ldlr expression caused severe atherosclerosis with marked accumulation of cholesterol-rich, apoE-poor remnants in mice with human apoE4, but not apoE3, suggesting that the receptor can trap apoE4.
- data provide an alternative mechanism of LDL receptor gene expression by non-classical estradiol- and tamoxifen-stimulated induction through an ER-alpha/Sp1 complex
- The mean of carotid artery intima-media maximum thicknesses was significantly higher in the 2312-3 C-->A group than in patients with other LDLr mutations
- patients with familial hypercholesterolemia carrying the null LDL receptor have elevation of plasma LDL-cholesterol attributable to both decreased clearance of LDL and increased hepatic production of apoB-100-containing lipoproteins
- cell surface levels of the LDLR mutants were significantly increased upon inhibition of the proteasome degradation pathway
- Point mutations in low density lipoprotein receptor is associated with severe hypercholesterolemia
- a rapid diagnostic assay capable of simultaneously analyzing seven point mutations in the low-density lipoprotein receptor (LDLR) gene, which occur at high frequency in South African familial hypercholesterolemia patients.
- low density lipoprotein receptor (LDLR) has a role in hypercholesterolemia mutations resulting in misfolding of the LDLR epidermal growth factor-AB pair
- findings indicate that low density lipoprotein (LDL) receptor adaptor protein(ARH) is required not only for internalization of the LDL.LDL Receptor complex but also for efficient binding of LDL to the receptor
- A total of 39 Novel missense mutations, nonsense mutations, and frameshift mutations were identified in a spanish familial hypercholesterolemia cohort.
- Results identify 16 different mutations of the low-density lipoprotein receptor (LDLR) gene in 25 unrelated Korean patients with heterozygous familial hypercholesterolemia and show effects on LDL receptor metabolism.
- Low-density lipoprotein receptor structure and folding [review]
- low density lipoprotein receptor variants appear significantly associated with Alzheimer's disease.
- LDL receptor contributes significantly to the clearance of LDL from plasma but plays a lesser role in the clearance of larger apoB-containing lipoproteins
- Atherosclerosis was significantly reduced in T-bet protein-deficient Ldlr-/- mice.
- Results indicate that overexpression of proprotein convertase subtilisin kexin 9 induces the degradation of the low-density lipoprotein receptor by a nonproteasomal mechanism in a post-endoplasmic reticulum compartment.
- Analysis of all 34 low density lipoprotein receptor gene mutations found in St.-Petersburg argues against strong founder effect in Russian familial hypercholesterolemia.
- LDL receptor intracellular fate depends on the cooperation between its ligand-binding and EGF domains
- Increased expression after weight loss may contribute to lower plasma ldl cholesterol and triglycerides in obese premenopausal women.
- apolipoprotein B mutation may have a role in hypobetalipoproteinemia, despite decreased binding to the low density lipoprotein receptor
- Ten novel (including three frame shift small deletions or insertions) and seven known mutations were detected
- 75 different LDL receptor mutations in 645 children with heterozygous familial hypercholesterolemia; in these children, null alleles were clearly associated with more elevated LDL cholesterol levels compared to receptor-defective mutations
- like the LDL receptor, LRP prefers lipid-bound forms of apoE, but in contrast to the LDL receptor, both LRP and the VLDL receptor recognize all apoE isoforms
- central nervous system levels of both human and murine apoE are directly regulated by LDLR
- The genotype of the mutant LDL receptor allele was independently associated with variations in LDL-PPD and could partly explain why negative-receptor FH heterozygotes may be at greater risk of cardiovascular disease than defective-receptor FH subjects.
- significance of tendon xanthomas (TX) in heterozygous subjects with familial hypercholesterolemia with LDL receptor mutation
- we identified 5 missense mutations and 1 large deletion in LDLR gene, including 1 novel mutation in Han Chinese with FH in Taiwan
- ARH is an endocytic sorting adaptor that actively participates in the internalization of the LDL-LDLR complex, possibly enhancing the efficiency of its packaging into the endocytic vesicles
- results demonstrate that the modular adaptor protein autosomal recessive hypercholesterolemia (ARH) must bind the LDLR tail and either clathrin or AP-2 to promote receptor clustering and internalization of LDL
- Combined mutations in LDLR and proprotein convertase subtilisin kexin 9 are associated with a severe phenotype for premature coronary disease.
- In familial hypercholesterolemia children, the null allele genotype was associated with a greater carotid intima-media thickness, higher HDL cholestserol levels and attenuated response to cholesterol lowering agents.
- No relationship was found between LDL-R polymorphism and coronary disease in the Chinese Han population.
- The mutation identified in the South American patient represents the first description of a variant in South American patients other than Brazilian Familial hypercholesterolemia patients.
- Study does not demonstrate an association between LDLR genotypes or haplotypes and Alzheimer's disease.
- PAF enhances its own receptor expression and then increases lipid accumulation by dysregulating LDL receptor regulation and inducing scavenger receptor expression in mesangial cells
- Five genomic deletions in the LDLR gene were characterized by amplification of mutated alleles and sequencing to identify genomic breakpoints in Danish familial hypercholesterolemic patients.
- It's identified three novel mutations (C25X, IVS3+5G>T, D558A) and two mutations previously described (D151N, A480E) in the low-density lipoprotein receptor(LDLR)gene.
- Amino acid sequences in the LDL receptor binding region of apolipoprotein B-100 was frequently recognized by autoantibodies that have been generated in response to breakdown products of LDL oxidation.
- findings support a role for LDLR in the natural infection by hepatitis C virus in humans
- Data show that liver X receptor alpha regulates the low-density lipoprotein receptor gene, which mediates the endocytic uptake of LDL cholesterol in the liver.
- data confirm the absence of a significant impact of the A370T polymorphism on LDL receptor function, at least as measured by the effect on plasma lipid levels and CHD risk.
- analysis of the LDLR recognition properties of apoE
- Results of the study indicate that LDL-C levels are a more important risk factor of event-free survival than the type of LDLR mutation.
- LDLR mutations included 85 different point mutations (7 not previously described) and 13 different large rearrangements in familial hypercholesterolemia
- LDLR is involved at an early stage in infection of normal human hepatocytes by serum-derived HCV virions.
- three new mutations of LDL receptor: G266C, T368M, and D451Y were identified in a cohort screening program in Italy
- apoE4, but not apoE3, in macrophages enhances atherosclerotic plaque development in an LDLr-dependent manner
- Thus our data shows that 3'UTR sequences that cause higher reporter gene expression in vitro are associated in Caucasians with plasma lipid profiles indicative of higher cardiovascular risk.
- replacing monounsaturated with polyunsaturated fat can benefit coronary heart disease by reducing the availability of oleoyl-CoA in the substrate pool of hepatic ACAT2
- PCSK9-mediated degradation of the LDLR appears to take place intracellularly and occurs even when endocytosis through clathrin-coated pits is blocked by hypertonic medium.
- analysis of rare polymorphism in the low density lipoprotein (LDL) gene that affects mRNA splicing
- two new large deletions in familial hypercholesterolemia patients of French Canadian descent
- two novel mutations were identified in exon 4 of the low-density lipoprotein receptor gene in a Chinese family with clinically diagnosed autosomal genetic hypercholesterolemia
- proprotein convertase subtilisin/kexin type 9 binding to epidermal growth factor-like repeat A of low density lipoprotein receptor decreases receptor recycling and increases degradation
- LDL-R may be one of the receptors implicated in Hepatitis C virus replication.
- the low-density lipoprotein receptor exon 12 polymorphism decreases splicing efficiency and associates with increased cholesterol
- Our data suggest that the LDLr plays a role in regulating cholesterol delivered to the baby from the placenta.
- Functional LDLR mutations occurred in 31 (60%) subjects, who received a diagnosis of familial hypercholesterolemia (FH).
- mutations in the familial hypercholesterolaemia (Review)
- A novel sequence change in repeat 3 of the promoter of the low-density lipoprotein receptor gene has been identified in a female patient with familial hypercholesterolemia.
- study provided novel evidence of an early decrease in LDLR mRNA in men and a later decrease in LRP mRNA in circulating mononuclear cells during the postprandial period
- Reduced expression of low-density lipoprotein receptor in hepatocellular carcinoma with paraneoplastic hypercholesterolemia.
- phlegm-dampness constitution is related with the P- and A+ allelic frequency of higher LDL-R genes at Pvu II and Ava II
- scavenger receptor class B, type I and the low-density lipoprotein receptor have roles in High-density lipoprotein-associated 17beta-estradiol fatty acyl ester uptake
- 2 novel mutations were identified in the LDLR gene of a family with a member suffering from severe Familial hypercholesterolemia; 1 was W165X, G > A substitution and IVS5-1G > A, was also a G > A substitution at the acceptor splice site of intron 5.
- results reveal a characteristic mutation pattern of autosomal dominant hypercholesterolemia in Taiwan, mainly in the LDLR and APOB genes
- The importance of allele drop-out in LDLR genotyping.
- In the setting of low density lipoprotein receptor deficiency, apoM-Tg mice with approximately 2-fold increased plasma apoM concentrations developed smaller atherosclerotic lesions than controls.
- REVIEW: overview of mutations reported for the LDLR gene, the APOB gene, the PCSK9 gene, resulting in ADH.
- The rs688T allele is associated with decreased LDLR exon 12 splicing efficiency in aged males, but not females.
- It is possible that the W462X mutation of LDLR gene is the main cause for familial hypercholesterolemia the family studied.
- These findings suggest that the 3'UTR LDLR polymorphisms in the Chinese population do not cause a predisposition to the development of coronary heart disease, nor do they affect the plasma lipid levels or the cholesterol-lowering effect of berberine.
- Male and female carriers of the T allele of LDLR IVS9-30C>T had a 1.5-fold risk of bile duct cancer.
- stability upon EDTA treatment is confined to LDLR type A (LA) ligand-binding repeats 1-7
- analysis of oxidative folding of ligand binding module 5 of the low density lipoprotein receptor
- study identified a novel splice mutation c.1186+1 G>A in the LDL receptor gene in a Tunisian family; it causes the utilization of a new cryptic donor splice site 51 bp downstream from the normal site
- The high affinity of apoE4 to the LDLR enhances VLDL sequestration on the hepatocyte surface but delays their internalization.
- Two variants, G186G and R385R, were found to be associated with altered splicing that cause familial hypercholesterolemia.
- Report effects of six APOA5 variants, identified in patients with severe hypertriglyceridemia, on in vitro lipoprotein lipase activity and receptor binding.
- PECAM-1 influences initiation and progression of atherosclerosis in LDL receptor deficient mice both positively and negatively, and that it does so in a site-specific manner.
- The epidermal growth factor homology domain of the LDL receptor drives lipoprotein release through an allosteric mechanism involving H190, H562, and H586
- Interaction of the A2 domain of F8 with LDLR follows the general mode, requires dissociation of factor VIII from von Willebrand factor, and is activation sensitive.
- The LDL-R synthesis dysfunction of familial hypercholesteremia patients leads to arterial stenosis and calcification, which are the major phenotype of the clinical disorder.
- A common variant at the LDLR gene locus affects LDL-cholesterol levels and, thereby, the risk for coronary artery disease.
- identification of the minimal inhibitory sequence of AnxA2 should pave the way toward the development of PCSK9 inhibitory lead molecules for the treatment of hypercholesterolemia
- Whereas the sedimentation coefficient for WT sLDLR increased when the pH was reduced from 7 to 5, no such change occurred in the case of the triple Lys mutant receptor or a His562Lys/His586Lys double mutant receptor.
- No statistical differences were found for LDLR C1773T distributions
- The spectrum of mutations in the low-density lipoprotein receptor gene in the Russian population