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CUBN Antibody

  • 货号：
    CSB-PA060183
  • 规格：
    ￥880
  • 其他：

产品详情

  • Uniprot No.：
    O60494
  • 基因名：
    CUBN
  • 别名：
    460 kDa receptor antibody; cubilin (intrinsic factor-cobalamin receptor) antibody; Cubilin antibody; Cubilin precursor antibody; Cubn antibody; CUBN_HUMAN antibody; IFCR antibody; Intestinal intrinsic factor receptor antibody; intrinsic factor B12-receptor antibody; Intrinsic factor-cobalamin receptor antibody; Intrinsic factor-vitamin B12 receptor antibody; megaloblastic anemia 1 antibody; MGA1 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Synthesized peptide derived from the N-terminal region of Human Cubilin.
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated
  • 抗体亚型：
    IgG
  • 纯化方式：
    The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
  • 产品提供形式：
    Liquid
  • 应用范围：
    IHC, ELISA
  • 推荐稀释比：
    Application Recommended Dilution
    IHC 1:100-1:300
    ELISA 1:40000
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

产品评价

靶点详情

  • 功能：
    Endocytic receptor which plays a role in lipoprotein, vitamin and iron metabolism by facilitating their uptake. Acts together with LRP2 to mediate endocytosis of high-density lipoproteins, GC, hemoglobin, ALB, TF and SCGB1A1. Acts together with AMN to mediate endocytosis of the CBLIF-cobalamin complex. Binds to ALB, MB, Kappa and lambda-light chains, TF, hemoglobin, GC, SCGB1A1, APOA1, high density lipoprotein, and the CBLIF-cobalamin complex. Ligand binding requires calcium. Serves as important transporter in several absorptive epithelia, including intestine, renal proximal tubules and embryonic yolk sac. May play an important role in the development of the peri-implantation embryo through internalization of APOA1 and cholesterol. Binds to LGALS3 at the maternal-fetal interface.
  • 基因功能参考文献：
    1. Study shows that cubilin mutations (novel and some previously reported) and all previously reported amnionless missense mutations resulted in endoplasmic reticulum retention and completely inhibited amnionless-dependent plasma membrane expression of cubilin. PMID: 29402915
    2. in teens with positive recto-vaginal group B streptococcus colonization, placental mRNA expression of cubilin is lower compared to those who tested negative for this infection PMID: 28622535
    3. Cubilin is involved in 25(OH) vitamin D uptake by adipocytes. PMID: 29186386
    4. Study identified CUBN as a marker for risk stratification of patients with renal cell carcinoma (RCC). Lack of CUBN expression was significantly associated with early disease progression and poor patient outcome, independent of T-stage, Fuhrman grade and nodal status. Owing to a highly RCC-specific expression profile, CUBN expression also has a potential role in clinical cancer differential diagnostics. PMID: 28052770
    5. CUBN SNP rs1801239 (I2984V), previously associated with albuminuria, was significantly associated with T2D-ESRD in blacks. PMID: 27197912
    6. Tumoral expression of cubilin is a positive predictive marker for treatment of metastatic renal cell cancer patients with sunitinib and sorafenib. PMID: 28260162
    7. The CUBN haplotypes were associated with an altered gastric cancer risk. PMID: 26959381
    8. CUBN was associated with albuminuria in type 2 diabetes patients. PMID: 26631737
    9. The variant rs11254363 of the CUBN gene was associated with a decreased risk of developing congenital heart disease in Han Chinese populations PMID: 24533076
    10. MA is associated with CVD irrespective of the presence of the CUBN risk allele. These results challenge the concept that albuminuria in the setting of this mutation is benign. PMID: 24052458
    11. Cubilin haploinsufficiency leads to reduced renal proximal tubular uptake of albumin and apolipoprotein (apo)A-I, significantly increasing urinary loss of albumin and apoA-I. PMID: 24357674
    12. predisposition to multibacillary leprosy in Vietnam is associated with CUBN and NEBL common variants in the chromosome 10p13 linkage region PMID: 24563210
    13. LOS treatment decreased microalbuminuria induced by Cd apparently through a cubilin receptor-dependent mechanism but independent of megalin. PMID: 24093454
    14. Data suggest that endodermal layer of yolk sac and syncytiotrophoblast/cytotrophoblast cells of placental villi express cubilin mRNA/protein; expression of cubilin mRNA/protein is up-regulated as gestation/placentation progresses. PMID: 23978537
    15. The p.I1e2984Val variant of cubulin is part of a larger haplotype in European populations that is almost absent in West Africans. PMID: 23114252
    16. Single nucleotide polymorphisms in cubilin gene is associated with iron overload. PMID: 22761678
    17. These data suggest that CUBN is not involved in cleft lip or palate onset in the investigated Italian population PMID: 21781439
    18. Our genetic screening of 154 families of patients with inherited cobalamin malabsorption revealed population-specific mutations, mutational hotspots, and functionally distinct regions in the three causal genes: CUBN, AMN, and GIF. PMID: 22929189
    19. used immunocytochemistry and reverse transcription-polymerase chain reaction on laser-captured glomeruli to demonstrate synthesis and expression of cubilin in glomerular podocytes PMID: 22337902
    20. Expression of megalin and cubilin is decreased during experimental endotoxemia, which may contribute to an increase in urine levels of albumin during acute renal failure. PMID: 22437417
    21. CUBN rs7918972 as a novel risk variant for renal function loss PMID: 22574174
    22. amnionless is essential for the correct luminal expression of cubilin in humans. PMID: 21750092
    23. A novel 1-bp homozygous deletion of the cubilin was found to be the cause of proteinuria with nephrotic syndrome. PMID: 21903995
    24. megalin and cubilin are involved in the metabolism of vitamin D by reabsorbing vitamin D binding protein; dysfunction of these receptors is likely to be associated with the development of vitamin D deficiency in patients with chronic kidney disease PMID: 21595846
    25. There is a missense CUBN variant that associates with levels of albuminuria in both the general population and in individuals with diabetes. PMID: 21355061
    26. cubilin gene polymorphisms have an influence on 25(OH)D3 and 1,25(OH)2D3 plasma levels in type 1 diabetes patients PMID: 20398757
    27. crystal structure of the complex between IF-Cbl and the cubilin IF-Cbl-binding-region (CUB(5-8)) determined at 3.3 A resolution PMID: 20237569
    28. Comparative analysis of cobalamin binding kinetics PMID: 11788601
    29. Megalin and cubilin: multifunctional endocytic receptors. A review. PMID: 11994745
    30. proteinuria was due to the lack of cubilin function needed for tubular reabsorption of some, but not all, proteins of the primary urine. PMID: 12687456
    31. cubilin and amnionless are subunits of a novel cubilin/amnionless (cubam) complex PMID: 14576052
    32. the early cubilin expression and its function in protein and cholesterol uptake suggest an important role for cubilin in the development of the peri-implantation embryo PMID: 15616221
    33. Formation of the cubilin recognition site on intrinsic factor (IF) is caused by assembly of two distant domains, which allows the saturated IF protein to be recognized by the receptor. PMID: 15736970
    34. interactions of COBALAMIN BINDING proteins with a number of ligands PMID: 17487979
    35. This review summarizes recent data on the biological function of cubilin and focuses on its implication in embryonic nutrition and central nervous system malformations. PMID: 17979745
    36. light chain endocytosis is predominantly mediated by the megalin-cubilin tandem endocytic receptor and identify endocytosis as a key step in light chain cytotoxicity. PMID: 18448595
    37. results show different expression patterns of megalin and cubulin in calculous gallbladders and acalculous gallbladders suggesting an association with gallstone formation and implying a putative role of the two proteins in cholesterol endocytosis PMID: 18791690
    38. An association study of 45 folate-related genes in spina bifida: Involvement of cubilin PMID: 19161160
    39. Aberrant shedding of megalin and cubilin may contribute to albuminuria in diabetes and to deficiency states of important vitamins and hormones. PMID: 19366958

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  • 相关疾病：
    Recessive hereditary megaloblastic anemia 1 (RH-MGA1)
  • 亚细胞定位：
    Apical cell membrane; Peripheral membrane protein. Cell membrane; Peripheral membrane protein. Membrane, coated pit. Endosome. Lysosome membrane; Peripheral membrane protein.
  • 组织特异性：
    Detected in kidney cortex (at protein level). Expressed in kidney proximal tubule cells, placenta, visceral yolk-sac cells and in absorptive intestinal cells. Expressed in the epithelium of intestine and kidney.
  • 数据库链接：

    HGNC: 2548

    OMIM: 261100

    KEGG: hsa:8029

    STRING: 9606.ENSP00000367064

    UniGene: Hs.166206