Recombinant Human Low-density lipoprotein receptor(LDLR),partial

Code CSB-YP012846HU
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Source Yeast
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Code CSB-EP012846HU
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Source E.coli
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Code CSB-EP012846HU-B
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Source E.coli
Conjugate Avi-tag Biotinylated
E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.
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Code CSB-BP012846HU
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Source Baculovirus
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Code CSB-MP012846HU
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Source Mammalian cell
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Product Details

Purity >85% (SDS-PAGE)
Target Names LDLR
Uniprot No. P01130
Alternative Names FH; FHC; LDL R; LDL receptor; LDLCQ2; Ldlr; LDLR_HUMAN; Low Density Lipoprotein Receptor; Low density lipoprotein receptor class A domain containing protein 3; Low density lipoprotein receptor familial hypercholesterolemia; Low-density lipoprotein receptor
Species Homo sapiens (Human)
Protein Length Extracellular domain
Tag Info The following tags are available.
N-terminal His-tagged
Tag-Free
The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
Form Lyophilized powder
Buffer before Lyophilization Tris/PBS-based buffer, 6% Trehalose, pH 8.0
Reconstitution We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
Troubleshooting
and FAQs
Protein FAQs
Storage Condition Store at -20°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
Lead Time Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
Notes Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet Please contact us to get it.

Target Data

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.
Gene References into Functions
  1. 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
  2. A randomized trial and novel SPR technique identifies altered lipoprotein-LDL receptor binding as a mechanism underlying elevated LDL-cholesterol in APOE4s PMID: 28276521
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. Vesicular stomatitis virus G protein complex with two distinct cysteine-rich domains (CR2 and CR3) of LDL-R PMID: 29531262
  9. Report familial hypercholesterolemia patients with multiple mutations at the LDLR gene presenting with more severe phenotype than single mutants. PMID: 28645073
  10. LDLr in the activated PSFs may become a novel target receptor for controlled drug delivery. PMID: 28686975
  11. 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
  12. 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
  13. Heparan sulfate proteoglycans binding is required for PCSK9-induced LDLR degradation. PMID: 28894089
  14. membrane LDLR was reduced and lost the ability to take up LDL. Our data also expand the spectrum of known LDLR mutations PMID: 29228028
  15. 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
  16. 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
  17. 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
  18. Twenty mutations including synonymous, missense, and intronic mutations were identified in the LDLR coding region of 32 Brazilian patients with familial hypercholesterolemia. PMID: 28873201
  19. 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
  20. Identify LDLR, APOB and PCSK9 novel mutations causing familial hypercholesterolemia in the central south region of China. PMID: 28235710
  21. 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
  22. Data indicate that proteasomal degradation, lysosomal degradation, autophagy or ectodomain cleavage were not the underlying mechanism for degradation of these mutant LDLRs. PMID: 28334946
  23. PCSK9 inhibits lipoprotein(a) clearance through the LDLR. PMID: 28750079
  24. 4 siblings found to be compound heterozygotes for 2 LDLR gene mutations but showing a different phenotype severity PMID: 27578127
  25. 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
  26. 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
  27. LDLR associated with Familial Hypercholesterolemia and Polygenic Hypercholesterolemia in patients with Acute Coronary Syndrome , age /=160 mg/dl. PMID: 28958330
  28. Chinese W483X mutation in the low-density lipoprotein-receptor gene in young patients with homozygous familial hypercholesterolemia PMID: 27206941
  29. Proprotein convertase subtilisin/kexin 9 V4I variant with LDLR mutations modifies the phenotype of familial hypercholesterolemia PMID: 27206942
  30. 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
  31. 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
  32. 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
  33. Genetic etiology of familial hypercholesterolemia was confirmed in 103 probands following analysis of the whole LDLR gene in a Slovak population. PMID: 27824480
  34. 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
  35. hepatocytes clear lipopolysaccharides from the circulation via the LDLR. PMID: 27171436
  36. 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
  37. 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
  38. LDLR mutation is associated in children and adolescent with familial hypercholesterolemia. PMID: 28161202
  39. 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
  40. 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
  41. 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
  42. Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) Single Domain Antibodies Are Potent Inhibitors of Low Density Lipoprotein Receptor Degradation. PMID: 27284008
  43. 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
  44. Lipoprotein profiles get improved by liver-directed gene transfer of human LDLR gene in hypercholesterolaemia mice. PMID: 27350674
  45. Multiple novel LDLR and ApoB mutations have been identified in a-United Kingdom-based cohort with familial hypercholesterolemia. PMID: 26748104
  46. Mutations in LDLR is associated with coronary artery disease. PMID: 26927322
  47. 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
  48. 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
  49. Report increased intestinal cholesterol absorption and elevated serum cholesterol in families with primary hypercholesterolemia without mutations in LDLR. PMID: 26802983
  50. 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
  51. genetic confirmation of ADH may be important to identify patient's risk of CHD, especially for female LDLR mutation carriers PMID: 26892126
  52. Specifically, loss of IDOL increases LDLR distribution in the hepatic cell, and subsequently reduces serum LDL-C levels in dyslipidemic patients. PMID: 26601593
  53. de novo mutation of the LDL receptor gene as the cause of familial hypercholesterolemia PMID: 26721317
  54. A recurrent frameshift mutation in LDLR gene causing familial hypercholesterolemia was identified in 9 probands and their relatives. PMID: 26688439
  55. LDL receptor gene polymorphisms play a role in the treatment response of hepatitis C and the modulation of disease progression in Egyptians infected with chronic HCV. PMID: 26494968
  56. This study aimed to perform a systematic review of LDLR mutations in China. PMID: 26608663
  57. miR-185 controls cholesterol homeostasis as a key posttranscriptional LDLR modulator in hepatic cells, providing novel insight into the regulatory mechanism for LDLR expression and the anti-atherosclerosis effect of miR-185-inhibitor. PMID: 26523989
  58. Three polymorphisms in the 3' UTR region of LDLR, c.*52G>A, c.*504G>A, and c.*773A>G, and two at the 5' UTR region of PCSK9, c.-3383C>G and c.-2063A>G, were associated with response to Armolipid Plus PMID: 27015087
  59. in well characterized FCHL individuals, variants in LDLR and LPL provide a small contribution to dyslipidemia PMID: 26342331
  60. MicroRNA-27a has a role in decreasing the level and efficiency of the LDL receptor and contributes to the dysregulation of cholesterol homeostasis PMID: 26318398
  61. Data suggest inducible expression of IDOL is subject to robust, rapid regulation by process that is sensitive to deubiquitinase inhibition in human/mouse cell lines and primary human cells; transcriptional induction of IDOL leads to degradation of LDLR. PMID: 26719329
  62. patients with a null LDLR mutation had: higher baseline LDL-C, higher LDL-C after drug therapy--{REVIEW} PMID: 26427613
  63. analysis of LDLR mutations in familial hypercholesterolemia patients in the Saudi population PMID: 26345093
  64. LDLR gene synonymous mutation c.1813C>T results in mRNA splicing variation in a kindred with familial hypercholesterolaemia PMID: 25624525
  65. Mutation p.L799R in the LDLR should be considered a member of a separate class of Familial Hypercholesterolemia-causing mutations that affects the insertion of the LDLR in the cell membrane. PMID: 26220972
  66. LDLR gene is a new susceptibility gene associated with the development of thrombosis in antiphospholipid antibodies carriers. PMID: 26820623
  67. Identify USP2 as a novel regulator of lipoprotein clearance owing to its ability to control ubiquitylation-dependent degradation of the LDLR by IDOL. PMID: 26666640
  68. demonstrates that sequence variants that disrupt the LDL receptor can lower non-HDL-C and protect against CAD PMID: 26327206
  69. Levels of FGF21 are not different in patients with and without LDLR mutations, which suggests that decreased LDLR expression does not have a negative effect on FGF21 levels. PMID: 26068142
  70. Intron mutation in LDLR is responsible for severe hypercholesterolaemia in a Chinese family. PMID: 26077743
  71. studies identify a novel PPRE-mediated regulatory mechanism for LDLR transcription and suggest that combined treatment of statin with PPARdelta agonists may have advantageous effects on LDLR expression. PMID: 26443862
  72. Mg(++), at high concentration in the endosome, favors the formation of the closed conformation by replacing the structuring effect of Ca(++) in LR5 PMID: 26526611
  73. first reported two unique mutations (c.2000_2000 delG/p.C667LfsX6 and c.605T>C/p.F202S) in LDLR gene. PMID: 25846081
  74. functional assays suggest that c.-101T>C and c.-121T>C promoter variants cause hypercholesterolaemia, whereas c.-13A>G variant is benign, and the status of c.-215A>G remains unclear. PMID: 25248394
  75. One novel (c.64del G) and 12 known mutations were found in the LDLR gene. Mutation of p.C308Y was the most common and was found in 26% of the studied alleles PMID: 25911080
  76. the most frequent LDLR genotype in dyslipidemia was AA. PMID: 26131702
  77. LDLR was not required for the degradation of CD81 by PCSK9, but its presence strengthened the PCSK9 effect. PMID: 26195630
  78. This study identified two LDLR mutations in Chinese patients with familial hypercholesterolemia. PMID: 24671153
  79. LDLR p.G116S is thus unique: a common dysfunctional variant in Inuit whose large effect on LDL cholesterol may have public health implications PMID: 25414273
  80. curcumin enhanced LDL receptor (LDLR) level on the cell surface, as well as LDLR activity; however, LDLR transcription and mRNA stability were not affected PMID: 25164566
  81. PCSK9 is required for supratranscriptional upregulation of LDLR by estradiol. PMID: 25913303
  82. In Finland, at least 1 in 600 individuals is estimated to have familial hypercholesterolemia. A marked undertreatment of FH was observed in LDLR mutation carriers. PMID: 25437892
  83. We conclude that PCSK9 enhances the degradation of the LDLR independently of either APLP2 or sortilin both ex vivo and in mice. PMID: 26085104
  84. Report LDL receptor missense variants located in the cysteine-rich repeats altering activity. PMID: 25545329
  85. Findings emphasize the importance of characterizing LDLR pathogenic variants to provide an indisputable familial hypercholesterolemia diagnosis and to gain insight into the statin response depending on the LDLR class mutation. PMID: 25378237
  86. No relationship of anti-ox LDL level with cognition, hypertension, metabolic syndrome, inflammation indicators and serum lipid levels was observed. PMID: 25459919
  87. analysis of LDLR mutations in familial hypercholesterolemia in Greek children and their families PMID: 25463123
  88. Our results show that though leptin stimulates LDLR expression very weakly through JAK-STAT signaling pathway, it mainly imposes inhibition on LDLR expression by inhibiting transcription factor SREBP2 PMID: 25488447
  89. Several lipid-related gene polymorphisms interact with overweight/obesity to modulate blood pressure levels. PMID: 23109900
  90. homozygote genotypes of rs1122608 (P<0.0001), rs4300767 (P<0.005) and rs10417578 (p<0.007) SNPs have strong protective effects on the CAD. PMID: 24902015
  91. Transmission of LDLR mutation from donor through liver transplantation results in hypercholesterolemia in the recipient. PMID: 25231171
  92. LDLR plays a role in Lp(a) catabolism and that this process can be modulated by PCSK9 PMID: 25778403
  93. An increased shedding of LDLR followed Abeta exposure in human brain endothelial cells. When Abeta was co-treated with each apoE isoform, Abeta-induced shedding was reduced with apoE2 and apoE3. Lipoprotein receptor shedding in the presence of apoE4 increased. PMID: 25015123
  94. Next generation sequencing results identify seven deleterious variants in LDLR, APOB and PCK9 genes highly associated with familial hypercholesterolemia. PMID: 25839937
  95. Importantly, considering experimental data refined the risk of rare LDLR allele carriers from 4.5- to 25.3-fold for high LDL-C, and from 2.1- to 20-fold for early-onset myocardial infarction. PMID: 25647241
  96. Further study of PCSK9 regulatory mechanisms may identify additional control points for pharmacological inhibition of PCSK9-mediated LDLR degradation. PMID: 25110901
  97. 13 mutations were identified in low density lipoprotein receptor gene, 7 of them are reported for the first time in Familial hypercholesterolemia patients in Kareliya,Russia. PMID: 25775905
  98. study found the two "Finnish" mutations (FH-Helsinki and FH-North Karelia)together responsible for 2/3 familial hypercholesterolemia cases in Finland were extremely rare in the Russian regions neighboring Finland PMID: 24137609
  99. Numb specifically regulates NPC1L1-mediated cholesterol absorption both in human intestine and liver, distinct from ARH and Dab2, which selectively participate in LDLR-mediated LDL uptake. PMID: 25331956
  100. the c.1055G>A mutation in the LDLR gene in familial hypercholesterolemia PMID: 25234566

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Involvement in disease Familial hypercholesterolemia (FH)
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 Links

HGNC: 6547

OMIM: 143890

KEGG: hsa:3949

STRING: 9606.ENSP00000454071

UniGene: Hs.213289

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