Genomes and Genes
Gene Symbol: FHR 4
Description: complement factor H related 4
Alias: CFHL4, FHR-4, FHR4, complement factor H-related protein 4
Products: FHR 4
- Veneman W, Spaink H, Brun N, Bosker T, Vijver M. Pathway analysis of systemic transcriptome responses to injected polystyrene particles in zebrafish larvae. Aquat Toxicol. 2017;190:112-120 pubmed publisher..g. cfhl3, cfhl4, cfb and c9)...
- Sullivan M, Erlic Z, Hoffmann M, Arbeiter K, Patzer L, Budde K, et al. Epidemiological approach to identifying genetic predispositions for atypical hemolytic uremic syndrome. Ann Hum Genet. 2010;74:17-26 pubmed publisher..Occurrence of homo- and heterozygous mutations in the same gene suggests that the number of necessary DNA variants remains unclear. Among clinical information only familial occurrence predicts a mutation. ..
- Jozsi M, Richter H, Löschmann I, Skerka C, Buck F, Beisiegel U, et al. FHR-4A: a new factor H-related protein is encoded by the human FHR-4 gene. Eur J Hum Genet. 2005;13:321-9 pubmed..To our knowledge, FHR-4A provides the first evidence for alternative splicing among Factor H-related genes. ..
- Naj A, Scott W, Courtenay M, Cade W, Schwartz S, Kovach J, et al. Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis. Ann Hum Genet. 2013;77:215-31 pubmed publisher..57, P = 2.73 × 10(-5) ), with an inverse association among smokers (OR = 1.42, P = 0.00228), suggesting that smoking modifies the effect of some genetic polymorphisms on AMD risk. ..
- Williams F, Carter A, Hysi P, Surdulescu G, Hodgkiss D, Soranzo N, et al. Ischemic stroke is associated with the ABO locus: the EuroCLOT study. Ann Neurol. 2013;73:16-31 pubmed publisher..811). ABO gene variants are associated with large-vessel and cardioembolic stroke but not small-vessel disease. This work sheds light on the different pathogenic mechanisms underpinning stroke subtype. ..
- Lin W, Lee W. Incorporating prior knowledge to facilitate discoveries in a genome-wide association study on age-related macular degeneration. BMC Res Notes. 2010;3:26 pubmed publisher..05. These include SNPs within three genes: CFH, CFHR4, and SGCD. Based on the success of this example, we advocate using the simple method of PSA to facilitate discoveries in future GWASs. ..
- Moore I, Strain L, Pappworth I, Kavanagh D, Barlow P, Herbert A, et al. Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome. Blood. 2010;115:379-87 pubmed publisher..In 5 patients mutations were identified: 1 in CFH, 1 in CFI, 1 in CD46, and 2 in C3. The latter observation emphasizes that multiple concurrent factors may be necessary in individual patients for disease manifestation. ..
- Mihlan M, Hebecker M, Dahse H, Hälbich S, Huber Lang M, Dahse R, et al. Human complement factor H-related protein 4 binds and recruits native pentameric C-reactive protein to necrotic cells. Mol Immunol. 2009;46:335-44 pubmed publisher..In addition, CFHR4 facilitated binding of native CRP to the surface of necrotic cells. Altogether these data identify CFHR4 as a novel ligand for native CRP, and suggest a role for CFHR4 in opsonization of necrotic cells. ..
- Zhang H, Morrison M, Dewan A, Adams S, Andreoli M, Huynh N, et al. The NEI/NCBI dbGAP database: genotypes and haplotypes that may specifically predispose to risk of neovascular age-related macular degeneration. BMC Med Genet. 2008;9:51 pubmed publisher..This is the first replication study on the NEI dbGAP SNPs, demonstrating that alleles on 1q, 2q and 10q may predispose an individual to AMD. ..
- Skerka C, Hellwage J, Weber W, Tilkorn A, Buck F, Marti T, et al. The human factor H-related protein 4 (FHR-4). A novel short consensus repeat-containing protein is associated with human triglyceride-rich lipoproteins. J Biol Chem. 1997;272:5627-34 pubmed..This observation provides an intriguing new aspect on possible function(s) of this novel protein and the other factor H-related proteins. ..
- Hageman G, Hancox L, Taiber A, Gehrs K, Anderson D, Johnson L, et al. Extended haplotypes in the complement factor H (CFH) and CFH-related (CFHR) family of genes protect against age-related macular degeneration: characterization, ethnic distribution and evolutionary implications. Ann Med. 2006;38:592-604 pubmed..The considerable diversity accumulated at this locus may be due to selection, which is consistent with an important role for the CFHR genes in innate immunity. ..
- Hellwage J, Skerka C, Zipfel P. Biochemical and functional characterization of the factor-H-related protein 4 (FHR-4). Immunopharmacology. 1997;38:149-57 pubmed..Functional analyses show dose-dependent binding of recombinant FHR-4 to C3b, thus demonstrating a functional relatedness between FHR-4, factor H and FHL-1 and other complement regulators of the RCA gene cluster. ..
- Hughes A, Bridgett S, Meng W, Li M, Curcio C, Stambolian D, et al. Sequence and Expression of Complement Factor H Gene Cluster Variants and Their Roles in Age-Related Macular Degeneration Risk. Invest Ophthalmol Vis Sci. 2016;57:2763-9 pubmed publisher..However, the striking difference between systemic and ocular expression of complement regulators shown in this study suggests important implications for the development of intraocular and systemic treatments. ..
- Hebecker M, Okemefuna A, Perkins S, Mihlan M, Huber Lang M, Jozsi M. Molecular basis of C-reactive protein binding and modulation of complement activation by factor H-related protein 4. Mol Immunol. 2010;47:1347-55 pubmed publisher..In summary, these data reveal the molecular basis of the specific interaction of CFHR4 with native CRP and suggest a role for CFHR4 in enhancing opsonization via CRP binding. ..
- Hebecker M, Jozsi M. Factor H-related protein 4 activates complement by serving as a platform for the assembly of alternative pathway C3 convertase via its interaction with C3b protein. J Biol Chem. 2012;287:19528-36 pubmed publisher..In conclusion, our results suggest that, in contrast to the complement inhibitor factor H, CFHR4 acts as an enhancer of opsonization by promoting complement activation. ..
- Diaz Guillen M, Rodriguez De Cordoba S, Heine Suñer D. A radiation hybrid map of complement factor H and factor H-related genes. Immunogenetics. 1999;49:549-52 pubmed
- Hellwage J, Jokiranta T, Koistinen V, Vaarala O, Meri S, Zipfel P. Functional properties of complement factor H-related proteins FHR-3 and FHR-4: binding to the C3d region of C3b and differential regulation by heparin. FEBS Lett. 1999;462:345-52 pubmedThe human factor H-related proteins FHR-3 and FHR4 are members of a family of proteins related to the complement factor H. Here, we report that the two proteins bind to the C3d region of complement C3b...