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  4. FBN1 Antibody

FBN1 Antibody

  • 货号：
    CSB-PA107393
  • 规格：
    ￥1100
  • 图片：
    • The image on the left is immunohistochemistry of paraffin-embedded Human thyroid cancer tissue using CSB-PA107393(FBN1 Antibody) at dilution 1/47, on the right is treated with synthetic peptide. (Original magnification: ×200)
  • 其他：

产品详情

  • Uniprot No.：
    P35555
  • 基因名：
  • 别名：
    350 kDa glycoprotein component extracellular microfibril antibody; ACMICD antibody; FBN 1 antibody; FBN antibody; FBN1 antibody; FBN1_HUMAN antibody; Fibrillin 15 antibody; Fibrillin-1 antibody; Fibrillin1 antibody; Fibrillin15 antibody; GPHYSD2 antibody; Marfan syndrome antibody; MASS antibody; MFS 1 antibody; MFS1 antibody; OCTD antibody; SGS antibody; SSKS antibody; Weill Marchesani syndrome antibody; WMS antibody; WMS2 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse
  • 免疫原：
    Synthetic peptide of Human FBN1
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen affinity purification
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    -20°C, pH7.4 PBS, 0.05% NaN3, 40% Glycerol
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,IHC
  • 推荐稀释比：
    Application Recommended Dilution
    ELISA 1:1000-1:5000
    IHC 1:50-1:200
  • 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：
    Structural component of the 10-12 nm diameter microfibrils of the extracellular matrix, which conveys both structural and regulatory properties to load-bearing connective tissues. Fibrillin-1-containing microfibrils provide long-term force bearing structural support. In tissues such as the lung, blood vessels and skin, microfibrils form the periphery of the elastic fiber, acting as a scaffold for the deposition of elastin. In addition, microfibrils can occur as elastin-independent networks in tissues such as the ciliary zonule, tendon, cornea and glomerulus where they provide tensile strength and have anchoring roles. Fibrillin-1 also plays a key role in tissue homeostasis through specific interactions with growth factors, such as the bone morphogenetic proteins (BMPs), growth and differentiation factors (GDFs) and latent transforming growth factor-beta-binding proteins (LTBPs), cell-surface integrins and other extracellular matrix protein and proteoglycan components. Regulates osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively. Negatively regulates osteoclastogenesis by binding and sequestering an osteoclast differentiation and activation factor TNFSF11. This leads to disruption of TNFSF11-induced Ca(2+) signaling and impairment of TNFSF11-mediated nuclear translocation and activation of transcription factor NFATC1 which regulates genes important for osteoclast differentiation and function. Mediates cell adhesion via its binding to cell surface receptors integrins ITGAV:ITGB3 and ITGA5:ITGB1. Binds heparin and this interaction has an important role in the assembly of microfibrils.; Adipokine secreted by white adipose tissue that plays an important regulatory role in the glucose metabolism of liver, muscle and pancreas. Hormone that targets the liver in response to fasting to increase plasma glucose levels. Binds the olfactory receptor OR4M1 at the surface of hepatocytes and promotes hepatocyte glucose release by activating the protein kinase A activity in the liver, resulting in rapid glucose release into the circulation. May act as a regulator of adaptive thermogenesis by inhibiting browning and energy consumption, while increasing lipid deposition in white adipose tissue. Also acts as an orexigenic hormone that increases appetite: crosses the blood brain barrier and exerts effects on the hypothalamus. In the arcuate nucleus of the hypothalamus, asprosin directly activates orexigenic AgRP neurons and indirectly inhibits anorexigenic POMC neurons, resulting in appetite stimulation. Activates orexigenic AgRP neurons via binding to the olfactory receptor OR4M1. May also play a role in sperm motility in testis via interaction with OR4M1 receptor.
  • 基因功能参考文献：
    1. Three novel pathogenic variants were detected. Two of these variants [c.6610T>C; p.(Cys2204Arg) and c.1956T>G; p.(Cys652Trp)], which affect a cysteine residue, were associated with MS with ectopia lentis, whereas the mutation causing a premature stop codon [c.2506delA; p.(Ser836ValfsX10)] leads to a classical MS of a milder phenotype. PMID: 30048161
    2. Two rare missense mutations in the fibrillin1 gene associated with atypical cardiovascular manifestations in a Chinese patient affected by Marfan syndrome. PMID: 29845260
    3. This study has confirmed or corrected the clinical diagnosis, and enlarged the mutation spectrum of FBN1 and TGFBR2 and confirmed that parental mosaicism may be the cause of the varied phenotypic expression of these connective tissue disorders. The results should be helpful for prenatal diagnosis and genetic counseling. PMID: 30101859
    4. Novel FBN1 mutation (p.Cys2672Arg) has been described in a family with inherited Marfan Syndrome. PMID: 28321935
    5. A heterozygous mutation c.5284G > A (p.Gly1762Ser) in FBN1 gene was identified in all individuals affected with acromelic dysplasia in three families. PMID: 29191498
    6. Results demonstrate that the deleterious mutations in FBN1 largely contribute to pathogenesis of sporadic non-syndromic AD, which expands our knowledge of FBN1 variants and the genetic basis and pathology of AD. PMID: 28973303
    7. deletions in FBN1 results in variable phenotypes of Marfan syndrome PMID: 28842177
    8. Although causation has not been proven by this report, it certainly raises interest in a mechanistic relationship between FBN1 and left ventricular non-compaction cardiomyopathy. PMID: 27160103
    9. Most individuals meeting these criteria have a pathogenic variant in FBN1, usually unique or observed rarely. Individuals with EL alone may also have FBN1 pathogenic variants, and the risk for aortic disease is not well known. We identified a unique cohort of 31 individuals (mean age 29, range 2-78) from nine families ascertained by a proband with EL alone, who had the same FBN1 p.R650C variant PMID: 28941062
    10. A missense mutation (c.G6953A:p.C2318Y) and a nonsense mutation (c.C4786T:p.R1596X) were identified in the fibrillin 1 gene. PMID: 28901506
    11. Aortic stiffness is increased in Marfan syndrome, independently from fibrillin-1 genotype. PMID: 29210860
    12. The overexpression of miR-133b and silence of FBN1 could inhibit the cell proliferative, migratory and invasive abilities of gastric cancer cells, while the influence of down-regulated miR-133b expression and up-regulated FBN1 expression were quite the contrary. PMID: 28582847
    13. The N-terminal domain of FBN-1 mediates a bipartite interaction with LTBP1. PMID: 28669633
    14. The de novo mutation c.2647T>C (p.Trp883Arg) in FBN1 was identified in a Chinese patient with Marfan syndrome. PMID: 28650953
    15. In addition to performing a glucogenic function, asprosin is a centrally acting orexigenic hormone that is a potential therapeutic target in the treatment of both obesity and diabetes. PMID: 29106398
    16. We report a case of childhood glaucoma associated with neonatal Marfan syndrome caused by a novel FBN1 mutation. PMID: 28985825
    17. Examination of the FBN1 gene showed that the region commonly affected in FBN1-associated lipodystrophy is highly conserved both across the three human fibrillin genes and across genes encoding fibrillin-1 in vertebrates PMID: 27386756
    18. Further research is required to quantify these risks and establish appropriate recommendations for cardiovascular imaging, medical management, and prophylactic surgical intervention in individuals with FBN1--related acromelic dysplasia. PMID: 28696036
    19. There was a large spectrum of severity of the disease in probands carrying two mutated FBN1 alleles, but none of them presented extremely severe manifestations of Marfan syndrome (MFS)in any system compared with carriers of only one mutated FBN1 allele PMID: 27582083
    20. Review of the role of FBN1 mutations in neonatal Marfan syndrome. PMID: 27138491
    21. Marfan syndrome patients with FBN1 haploinsufficiency had a more severely affected aortic phenotype, with larger aortic root diameters and a more rapid dilation rate, and tended to have an increased risk of death and dissections compared with patients with a dominant negative mutation. PMID: 28468757
    22. FBN-1 is overexpressed in testicular germ cell tumours and especially in germ cell neoplasia in situ PMID: 27487789
    23. This report expands the phenotype of patients with 15q11.2 deletion involving FBN1 and its contiguous genes, and suggests a possible role for these other genes in the pathogenesis of the observed unusual clinical signs that are not explained by FBN1 haploinsufficiency. PMID: 27615407
    24. Mutation in FBN1 is associated with Marfan syndrome. PMID: 27893734
    25. A novel heterozygous missense mutation c.2243 T>G (p.C781W) in exon 19 of FBN1 was identified in 5 family members with autosomal dominant Marfan syndrome. PMID: 25966184
    26. Data suggest that FBN1 sequencing should be considered in individuals with familial thoracic aortic aneurysms and dissections (FTAAD) even without significant systemic features of Marfan syndrome (MFS). PMID: 26621581
    27. This report broadens the phenotypic spectrum of growth disorders associated with FBN1 mutations. Identical mutations give rise to a wide phenotypic spectrum, ranging from isolated short stature to a more classic picture of GD2 with cardiac involvement, distinct facial dysmorphisms and various skeletal anomalies. PMID: 27245183
    28. A subgroup of patients with Marfan syndrome (MFS) who have mutations in exons 24-32 of the FBN1 gene manifests severe atrioventricular valve insufficiency and skeletal problems as early as the neonatal period. These patients usually die in the first 2 years of life, thus a region between exons 24 and 32 of FBN1 is recognized as a critical region for this neonatal form of MFS (nMFS). [review, case reports] PMID: 26796135
    29. FBN1 gene mutation is associated with Marfan syndrome. PMID: 27724990
    30. Results showed two novel mutations in exon 12 and 50 of FBN1 identified in two Chinese family members with Marfan syndrome (MFS) which may be responsible for cardiovascular manifestations. PMID: 27558095
    31. The results expand the FBN1 mutation spectrum and enrich our knowledge of genotype-phenotype correlations. Genetic testing for MFS and its related aortic diseases is increasingly important for early intervention and treatment. PMID: 27234404
    32. miR-486-5p induces papillary thyroid carcinoma cell growth inhibition and apoptosis by targeting and suppressing FBN1. PMID: 27133060
    33. information of genotype-phenotype correlation owing to FBN1 mutations; the same FBN1 mutation, c. 1633C>T (Arg545Cys), was detected simultaneously in three different cardinal phenotypes (ectopia lentis, aortic dissection and unaffected) within one family. PMID: 27353645
    34. The frameshift mutation (c.4921delG, p.glu1641llysFsX9) detected in exon 40 led to a stop codon after the next 8 amino acids. PMID: 26905825
    35. Data show that interaction of fibrillin-1 with the bone morphogenetic protein 7 (BMP-7) complex results in a conformational change. PMID: 27059954
    36. Myopia was the most frequent ocular involvement. Patients with a premature termination codon mutation revealed to have a smaller risk of ectopia lentis. PMID: 27085269
    37. s discovered a protein hormone that regulates glucose homeostasis. It is the C-terminal cleavage product of profibrillin (encoded by FBN1). Its absence in humans results in a unique pattern of metabolic dysregulation that includes partial lipodystrophy, accompanied by reduced plasma insulin, while maintaining euglycemia. PMID: 27087445
    38. A marked decrease in heart rate variability, documented in the study, may be an important clinical feature in MS patients with confirmed FBN1 mutations. PMID: 26503076
    39. The R2726W FBN1 variant is associated with skeletal features of Marfan syndrome. PMID: 26875674
    40. This is the first report of ophthalmoplegia in association with stiff skin syndrome. PMID: 26471116
    41. New insights into the structure, assembly and biological roles of 10-12 nm connective tissue microfibrils from fibrillin-1 studies. PMID: 27026396
    42. Also, expansion of the mutation spectrum in FBN1 will be helpful in genetic counselling for Chinese patients with STAAD. PMID: 26272055
    43. Different syndromes are associated with different structural abnormalities in the fibrillin microfibril scaffold and perhaps with specific cellular receptors (mechanosensors). [Review] PMID: 25957947
    44. Data suggest that fibrillin-1 and ATP1B3 are binding partners of BST-2; fibrillin-1 (unlike ATP1B3) restricts of HIV-1 replication in a mechanism independent of BST-2. PMID: 26694617
    45. Data suggest that MFAP4 (microfibrillar-associated protein 4) binds tropoelastin, fibrillin-1/-2, and elastin cross-linking amino acid desmosine; MFAP4 co-localizes with fibrillin-1-positive fibers; MFAP4 promotes tropoelastin self-assembly. PMID: 26601954
    46. Patients with a FBN1 premature termination codon mutation had a more severe musculoskeletal phenotype than patients with an inframe mutation, suggesting the involvement of TGF-beta signaling dysregulation in the pathophysiologic mechanisms. PMID: 25656438
    47. These results suggest fundamental differences in the dominant pathogenic mechanisms underlying Marfan syndrome , stiff skin syndrome and the acromelic dysplasias, which give rise to TGFbeta dysregulation associated with these diseases. PMID: 25979247
    48. Progressive pathological aortic root enlargement as the result of degeneration of microfibril architecture and consequential loss of extracellular matrix integrity due to fibrillin-1 (FBN1) mutations are commonly diagnosed clinical manifestations of MFS. PMID: 25863307
    49. Left ventricular systolic dysfunction in asymptomatic Marfan syndrome patients is related to the severity of the FBN1 gene mutation. PMID: 25901601
    50. Data indicate that abnormal fibrillin-1 (FBN1) transcripts were indicated in fibroblasts from patients with the splice site mutation c.4817-2delA and the missense mutation c.A4925G. PMID: 26684006

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  • 相关疾病：
    Marfan syndrome (MFS); Ectopia lentis 1, isolated, autosomal dominant (ECTOL1); Weill-Marchesani syndrome 2 (WMS2); Overlap connective tissue disease (OCTD); Stiff skin syndrome (SSKS); Geleophysic dysplasia 2 (GPHYSD2); Acromicric dysplasia (ACMICD); Marfan lipodystrophy syndrome (MFLS)
  • 亚细胞定位：
    Secreted.; [Fibrillin-1]: Secreted, extracellular space, extracellular matrix.; [Asprosin]: Secreted.
  • 蛋白家族：
    Fibrillin family
  • 数据库链接：

    HGNC: 3603

    OMIM: 102370

    KEGG: hsa:2200

    STRING: 9606.ENSP00000325527

    UniGene: Hs.591133