CFHR5 Antibody (F54834)

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CFHR5 Antibody (F54834) Catalog No. Formulation Size F54834-0.4ML In 1X PBS, pH 7.4, with 0.09% sodium azide 0.4 ml F54834-0.08ML In 1X PBS, pH 7.4, with 0.09% sodium azide 0.08 ml Bulk quote request Availability 1-3 business days Species Reactivity Human Format Purified Clonality Polyclonal (rabbit origin) Isotype Rabbit Ig Purity Antigen affinity purified UniProt Q9BXR6 Applications Flow cytometry : 1:25 (1x10e6 cells) Immunohistochemistry (FFPE) : 1:25 Western blot : 1:500-1:2000 Limitations This CFHR5 antibody is available for research use only. Description CFHR5 is a member of a small complement factor H (CFH) gene cluster on chromosome 1. Each member of this gene family contains multiple short consensus repeats (SCRs) typical of regulators of complement activation. The protein encoded by this gene has nine SCRs with the first two repeats having heparin binding properties, a region within repeats 5-7 having heparin binding and C reactive protein binding properties, and the C-terminal repeats being similar to a complement component 3 b (C3b) binding domain. This protein co-localizes with C3, binds C3b in a dose-dependent manner, and is recruited to tissues damaged by C-reactive protein. Allelic variations in this gene have been associated, but not causally linked, with two different forms of kidney disease: membranoproliferative glomerulonephritis type II (MPGNII) and hemolytic uraemic syndrome (HUS). [provided by RefSeq]. Application Notes The stated application concentrations are suggested starting points. Titration of the CFHR5 antibody may be required due to differences in protocols and secondary/substrate sensitivity. Immunogen A portion of amino acids 203-231 from the human protein was used as the immunogen for the CFHR5 antibody. Storage Aliquot the CFHR5 antibody and store frozen at -20oC or colder. Avoid repeated freeze-thaw cycles. Ordering: Phone:858.663.9055 | Fax:1.267.821.0800 | Email:[email protected] Copyright © NSJ Bioreagents. All rights reserved.

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A Novel CFHR5 Mutation Associated with C3 Glomerulonephritis in a Turkish Girl
A novel CFHR5 mutation associated with C3 glomerulonephritis in a Turkish girl Nesrin Besbas, Bora Gulhan, Safak Gucer, Emine Korkmaz & Fatih Ozaltin Journal of Nephrology ISSN 1121-8428 Volume 27 Number 4 J Nephrol (2014) 27:457-460 DOI 10.1007/s40620-013-0008-1 1 23 Your article is protected by copyright and all rights are held exclusively by Italian Society of Nephrology. This e-offprint is for personal use only and shall not be self- archived in electronic repositories. If you wish to self-archive your article, please use the accepted manuscript version for posting on your own website. You may further deposit the accepted manuscript version in any repository, provided it is only made publicly available 12 months after official publication or later and provided acknowledgement is given to the original source of publication and a link is inserted to the published article on Springer's website. The link must be accompanied by the following text: "The final publication is available at link.springer.com”. 1 23 Author's personal copy J Nephrol (2014) 27:457–460 DOI 10.1007/s40620-013-0008-1 CASE REPORT A novel CFHR5 mutation associated with C3 glomerulonephritis in a Turkish girl Nesrin Besbas • Bora Gulhan • Safak Gucer • Emine Korkmaz • Fatih Ozaltin Received: 17 July 2013 / Accepted: 31 July 2013 / Published online: 5 December 2013 Ó Italian Society of Nephrology 2013 Abstract C3 glomerulopathy deﬁnes a subgroup of syndrome and persistently low C3 level, thus expanding the membranoproliferative glomerulonephritis (MPGN) char- genetic and phenotypic spectrum of the disease. Ecu- acterized by complement 3 (C3)-positive, immunoglobu- lizumab seems to be ineffective in this subtype.
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Complement Factor H–Related Hybrid Protein Deregulates Complement in Dense Deposit Disease
Complement factor H–related hybrid protein deregulates complement in dense deposit disease Qian Chen, … , Christine Skerka, Peter F. Zipfel J Clin Invest. 2014;124(1):145-155. https://doi.org/10.1172/JCI71866. Research Article Nephrology The renal disorder C3 glomerulopathy with dense deposit disease (C3G-DDD) pattern results from complement dysfunction and primarily affects children and young adults. There is no effective treatment, and patients often progress to end-stage renal failure. A small fraction of C3G-DDD cases linked to factor H or C3 gene mutations as well as autoantibodies have been reported. Here, we examined an index family with 2 patients with C3G-DDD and identified a chromosomal deletion in the complement factor H–related (CFHR) gene cluster. This deletion resulted in expression of a hybrid CFHR2-CFHR5 plasma protein. The recombinant hybrid protein stabilized the C3 convertase and reduced factor H–mediated convertase decay. One patient was refractory to plasma replacement and exchange therapy, as evidenced by the hybrid protein quickly returning to pretreatment plasma levels. Subsequently, complement inhibitors were tested on serum from the patient for their ability to block activity of CFHR2-CFHR5. Soluble CR1 restored defective C3 convertase regulation; however, neither eculizumab nor tagged compstatin had any effect. Our findings provide insight into the importance of CFHR proteins for C3 convertase regulation and identify a genetic variation in the CFHR gene cluster that promotes C3G-DDD. Monitoring copy number and sequence variations in the CFHR gene cluster in C3G-DDD and kidney patients with C3G-DDD variations will help guide treatment strategies. Find the latest version: https://jci.me/71866/pdf Research article Complement factor H–related hybrid protein deregulates complement in dense deposit disease Qian Chen,1 Michael Wiesener,2 Hannes U.
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FHR5 Binds to Laminins, Uses Separate C3b and Surface-Binding Sites, and Activates Complement on Malondialdehyde-Acetaldehyde Surfaces
Published February 26, 2018, doi:10.4049/jimmunol.1701641 The Journal of Immunology FHR5 Binds to Laminins, Uses Separate C3b and Surface-Binding Sites, and Activates Complement on Malondialdehyde-Acetaldehyde Surfaces Ramona B. Rudnick,* Qian Chen,*,1 Emma Diletta Stea,*,2 Andrea Hartmann,* Nikolina Papac-Milicevic,†,‡ Fermin Person,x Michael Wiesener,{ Christoph J. Binder,†,‡ Thorsten Wiech,x Christine Skerka,* and Peter F. Zipfel*,‖ Factor H related-protein 5 (CFHR5) is a surface-acting complement activator and variations in the CFHR5 gene are linked to CFHR glomerulonephritis. In this study, we show that FHR5 binds to laminin-521, the major constituent of the glomerular base- ment membrane, and to mesangial laminin-211. Furthermore, we identify malondialdehyde-acetaldehyde (MAA) epitopes, which are exposed on the surface of human necrotic cells (Homo sapiens), as new FHR5 ligands. Using a set of novel deletion fragments, we show that FHR5 binds to laminin-521, MAA epitopes, heparin, and human necrotic cells (HUVECs) via the middle region [short consensus repeats (SCRs) 5-7]. In contrast, surface-bound FHR5 contacts C3b via the C-terminal region (SCRs8-9). Thus, FHR5 uses separate domains for C3b binding and cell surface interaction. MAA epitopes serve as a complement-activating surface by recruiting FHR5. The complement activator FHR5 and the complement inhibitor factor H both bind to oxidation- speciﬁc MAA epitopes and FHR5 competes with factor H for binding. The C3 glomerulopathy–associated FHR21–2-FHR5 hybrid protein is more potent in MAA epitope binding and activation compared with wild-type FHR5. The implications of these results for pathology of CFHR glomerulonephritis are discussed.
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Comprehensive Genomic Analysis of Rhabdomyosarcoma Reveals a Landscape of Alterations Affecting a Common Genetic Axis in Fusion-Positive and Fusion-Negative Tumors
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CFHR5 Gene Complement Factor H Related 5
CFHR5 gene complement factor H related 5 Normal Function The CFHR5 gene provides instructions for making a protein called complement factor H- related 5. The precise function of this protein is unknown. However, its structure is similar to that of a protein called complement factor H (which is produced from the CFH gene). This similarity provides clues to the probable function of complement factor H- related 5. Complement factor H regulates a part of the body's immune response known as the complement system. The complement system is a group of proteins that work together to destroy foreign invaders (such as bacteria and viruses), trigger inflammation, and remove debris from cells and tissues. This system must be carefully regulated so it targets only unwanted materials and does not damage the body's healthy cells. Complement factor H helps to protect healthy cells by preventing the complement system from being turned on (activated) when it is not needed. Studies suggest that complement factor H-related 5 also plays a role in controlling the complement system. Health Conditions Related to Genetic Changes Atypical hemolytic-uremic syndrome MedlinePlus Genetics provides information about Atypical hemolytic-uremic syndrome C3 glomerulopathy Several mutations in the CFHR5 gene have been found to cause a rare form of kidney disease called C3 glomerulopathy. This disorder damages the kidneys and can lead to end-stage renal disease (ESRD), a life-threatening condition that prevents the kidneys from filtering fluids and waste products from the body effectively. The most common CFHR5 gene mutation has been identified in people from the Mediterranean island of Cyprus.
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A Narrative Review on C3 Glomerulopathy: a Rare Renal Disease
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Stage Kidney Disease and Associated Phenotypes in African and European Americans
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Rare Variants in the Complement Factor H–Related Protein 5 Gene Contribute to Genetic Susceptibility to Iga Nephropathy
CLINICAL RESEARCH www.jasn.org Rare Variants in the Complement Factor H–Related Protein 5 Gene Contribute to Genetic Susceptibility to IgA Nephropathy †‡ †‡ †‡ †‡ †‡ Ya-Ling Zhai,* § Si-Jun Meng,* § Li Zhu,* § Su-Fang Shi,* § Su-Xia Wang,* § †‡ †‡ †‡ †‡ †‡ Li-Jun Liu,* § Ji-Cheng Lv,* § Feng Yu,* § Ming-Hui Zhao,* § and Hong Zhang* § *Renal Division, Department of Medicine, Peking University First Hospital, Beijing, China; †Institute of Nephrology, Peking University, Beijing, China; ‡Key Laboratory of Renal Disease, Ministry of Health of China, Beijing, China; and §Key Laboratory of Chronic Kidney Disease Prevention and Treatment (Peking University), Ministry of Education, Beijing, China ABSTRACT A recent genome–wide association study of IgA nephropathy (IgAN) identified 1q32, which contains multiple complement regulatory genes, including the complement factor H (CFH) gene and the comple- ment factor H–related (CFHRs) genes, as an IgAN susceptibility locus. Abnormal complement activation caused by a mutation in CFHR5 was shown to cause CFHR5 nephropathy, which shares many character- istics with IgAN. To explore the genetic effect of variants in CFHR5 on IgAN susceptibility, we recruited 500 patients with IgAN and 576 healthy controls for genetic analysis. We sequenced all exons and their intronic flanking regions as well as the untranslated regions of CFHR5 and compared the frequencies of identified variants using the sequence kernel association test. We identified 32 variants in CFHR5, includ- ing 28 rare and four common variants. The distribution of rare variants in CFHR5 in patients with IgAN differed significantly from that in controls (P=0.002). Among the rare variants, in silico programs predicted nine as potential functional variants, which we then assessed in functional assays.
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CFHR5 Antibody
Efficient Professional Protein and Antibody Platforms CFHR5 Antibody Basic information: Catalog No.: UMA21128 Source: Mouse Size: 50ul/100ul Clonality: Monoclonal 3A10A5 Concentration: 1mg/ml Isotype: Mouse IgG2a Purification: The antibody was purified by immunogen affinity chromatography. Useful Information: WB:1:500 - 1:2000 IHC:1:200 - 1:1000 Applications: ICC:1:200 - 1:1000 FCM:1:200 - 1:400 ELISA:1:10000 Reactivity: Human, Mouse Specificity: This antibody recognizes CFHR5 protein. Purified recombinant fragment of human CFHR5 (AA: 344-569) expressed in Immunogen: E. Coli. This gene is a member of a small complement factor H (CFH) gene cluster on chromosome 1. Each member of this gene family contains multiple short consensus repeats (SCRs) typical of regulators of complement activation. The protein encoded by this gene has nine SCRs with the first two repeats having heparin binding properties, a region within repeats 5-7 having hepa- rin binding and C reactive protein binding properties, and the C-terminal Description: repeats being similar to a complement component 3 b (C3b) binding do- main. This protein co-localizes with C3, binds C3b in a dose-dependent manner, and is recruited to tissues damaged by C-reactive protein. Allelic variations in this gene have been associated, but not causally linked, with two different forms of kidney disease: membranoproliferative glomerulo- nephritis type II (MPGNII) and hemolytic uraemic syndrome (HUS). Uniprot: Q9BXR6 BiowMW: 64.4kDa Buffer: Purified antibody in PBS with 0.05% sodium azide Storage: Store at 4°C short term and -20°C long term. Avoid freeze-thaw cycles. Note: For research use only, not for use in diagnostic procedure.
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Duplication in CFHR5: a New Culprit in Inherited Renal Disease an Internal Duplication Within the Gene from the Same Country
RESEARCH HIGHLIGHTS GENETICS Duplication in CFHR5: a new culprit in inherited renal disease An internal duplication within the gene from the same country. We reasoned that that encodes complement factor-H-related they were likely to have the same genetic protein 5 (CFHR5) is responsible for problem, and this turned out to be the causing renal disease in individuals of case”, states Maxwell. Cypriot origin, say researchers. “We think The researchers then used a candidate this is the first clear example of such a gene approach to identify a novel variant change causing a highly penetrant disease”, that resulted in duplication of exons 2 and explains one of the study’s coauthors, 3 of CFHR5 in affected individuals. A PCR- Patrick Maxwell. based diagnostic test, developed by the findings provide evidence of an inherited To identify new genetic causes of renal researchers, was used to demonstrate renal disease, which they term CFHR5 disease, Maxwell and colleagues initially the presence of the mutation in additional nephropathy, charcterized by hematuria, performed genome-wide linkage analysis individuals from Cyprus or of Cypriot that may account for a substantial in two families from a London renal origin with unexplained hematuria or proportion of renal disease affecting transplant center. The families were both with end-stage renal disease of unknown Cypriots and their descendants worldwide. of Cypriot origin and had family members cause. By contrast, the researchers were Susan J. Allison who were affected by unusual renal unable to detect the CFHR5 duplication in disease that seemed to show an autosomal any of 36 individuals tested from the UK or Original article Gale, D.
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