|
ORF cDNA clones
|
CRISPR / TALEN
|
Lentivirus
|
AAV
|
TALE-TF
|
ORF knockin clones
|
|
Antibody
|
Proteins
|
miRNA target clones
|
qPCR primers
|
shRNA clones
|
miRNA products
|
Promoter clones
|
Validated All-in-One™ qPCR Primer for CFH(NM_000186.3) Search again
Product ID:
HQP008755
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
AHUS1, AMBP1, ARMD4, ARMS1, CFHL3, FH, FHL1, HF, HF1, HF2, HUS
Gene Description:
complement factor H
Target Gene Accession:
NM_000186.3(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Summary
This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short concensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complement activation, restricting this innate defense mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq].
Gene References into function
- This paper (PMID 10781834) was the first to describe the detailed structure of the human CFH gene.
- Three SIBLINGs (small integrin-binding ligand, N-linked glycoproteins) enhance factor H's cofactor activity enabling MCP-like cellular evasion of complement-mediated attack.
- molecular modelling of the C-terminal domains of factor H of human complement: a correlation between haemolytic uraemic syndrome and a predicted heparin binding site
- acts as adrenomedullin binding protein - review
- Recombinant factor H with deletions at the carboxyl-terminal end loses the ability to control the spontaneous activation of the alternative complement pathway on host-like surfaces, a functional defect that leads to acute renal failure in HUS.
- structural and functional characterization of three different factor H proteins purified from the plasma of patients with atypical hemolytic uremic syndrome who carry the factor H mutations W1183L, V1197A, or R1210C
- The site and putative residues on factor H (FH) essential for the interaction of the C-terminal end of FH with C3d, C3b, and heparin have been identified; the heparin- and C3d-binding sites are overlapping.
- two specific binding sites for adrenomedullin were found in factor H
- Screening for factor H gene (FH1) mutations contributes to the classification of atypical haemolytic uraemic syndrome (aHUS).
- promoted entry of Fba(+) group A streptococci into epithelial cells in a dose-dependent manner but did not affect invasion by an isogenic fba mutant
- CFH deficiency my favor acute allograft glomerulopathy.
- Review. Factor H is an essential regulatory protein for complement homeostasis in plasma & for the protection of bystander host cells & tissues from damage by complement activation. Genetic & structural data delineate the functional domains responsible.
- Complement factor H contributes to the control mechanism of in situ complement activation and prevents renal damage in idiopathic membranous nephropathy.
- Human complement regulatory factor H binds to Streptococcal pyogenes M18 surface protein Emm18.
- Binding to platelets is mediated by the C-terminal region of factor H and factor H mutated at the C-terminus exhibited reduces binding
- Factor H is cleaved by a dermatan sulfate-mediated protease identified in blood.
- A novel nucleotide substitution 3254T-->C causing a Ser1061Pro substitution in the short consensus repeat SCR18was found in a girl with hemolytic uremic sundrome.
- a common coding variant, Y402H, that significantly increases the risk for age-related macular degeneration (AMD)with odds ratios between 2.45 and 5.57 was revealed; this common variant likely explains approximately 43% of AMD in older adults
- tested single-nucleotide polymorphisms in CFH for association with age-related macular degeneration (AMD) in two case-control populations; possession of at least one histidine at amino acid position 402 increased the risk of AMD 2.7-fold
- identified a tyrosine-histidine polymorphism in which the histidine variant almost always occurs in the context of the age-related macular degeneration risk haplotype
- there are naturally occurring susceptibility factors in CFH and MCP for the development of atypical haemolytic-uraemic syndrome
- Binding of CFH to endothelial cells is mediated by the carboxy-terminal glycosaminoglycan binding site.
- no association of the complement factor H Y402H gene polymorphism with risk of incident thromboembolic events, nor with baseline levels of C-reactive protein
- Three heparin-binding sites were identified in complement factor H1.
- results suggest that the interaction with pneumococci PspC contributes to pneumococcal virulence.
- Deficiency of and mutations and variations in the complement factor H (CFH) gene are associated with the development of membranoproliferative glomerulonephritis type II.
- Keratinocytes are capable of synthesizing factor H and that this synthesis is regulated by IFN-gamma.
- These results suggest the contribution of the Y402H polymorphism of the CFH gene to exudative AMD susceptibility also in the French population
- Mutations in the complement regulators factor H, membrane cofactor protein (MCP), and factor I are associated with atypical hemolytic uremic syndrome.
- The CFH Y402H variant is strongly associated with both GA(geographic atrophy) and CNV (choroidal neovascularization) in the U.K. population.
- gene conversion is responsible for functionally significant CFH mutations in atypical hemolytic uremic syndrome
- Two different factor H mutations associated with atypical hemolytic uremic syndrome were examined: in one, factor H accumulated in cells, and in the other, membrane binding was reduced.
- three-dimensional solution structure of the C-terminal module pair of factor H
- Four previously found haplotypes and one additional haplotype were found. Haplotype frequencies were significantly different from those in found Americans affected with macular degeneration. Two were risk factors and one was protective.
- CFH gene determines susceptibility to myocardial infarction. HisHis homozygotes had a hazard ratio of 1.77 for myocardial infarction.
- CFH does not appear to be a primary hereditary contributor to age-related macular degeneration {ARMD} in Japanese, and the absence of CFH contribution to ARMD in Japanese may correlate with the findings in ethnic differences of ARMD phenotypes.
- No evidence was found to associate the complement factor H Y402H gene polymorphism with coronary artery disease and atherosclerosis.
- When bound to Neisseria meningitidis, factor H retains its activity as cofactor of alternative complement pathway factor I and contributes to the ability of N. meningitidis to avoid complement-mediated killing in the presence of human serum.
- Results describe age-related macular degeneration (AMD) genetic risk factors through identification of polymorphisms in ERCC6 and in complement factor H.
- Factor H (fH) binds to an approximately 29-kDa outer membrane protein on Neisseria meningitidis identified as GNA1870; binding of down-regulator protein fH correlates with levels of neisserial GNA1870 expression.
- amino acid 384 is adjacent to a heparin-binding site in CCP7 of factor H and demonstrate that the allotypic variants differentially recognize heparin
- Results indicate that CFH (complement factor H) increases the risk of developing GA (grade 4) as well as neovascular (grade 5) and milder (grade 3) disease.
- CFH Y402H polymorphism may account for a substantial proportion of age-related macular degeneration and may confer particular risk in the presence of environmental and genetic stimulators of the complement cascade.
- The allele frequency of Y402H polymorphism in CFH (complement factor H)has an ethnic variation, with much lower 1277C frequency in Chinese than in white patients.
- The CFH gene polymorphism seems to be an important etiologic factor for AMD also in the isolated Finnish population.
- combined liver-kidney transplantation offers the prospect of a favorable long-term outcome for patients with hemolytic uremic syndrome associated with complement factor H mutations
- We suggest that protracted administration of exogenous factor H might not be a long-term strategy in homozygous factor H deficiency.
- The CFH polymorphism Tyr402His appears indicative of AMD (age-related macular degeneration) pathogenesis.
- A significant level of CFH expression is maintained in different ocular tissues during development and aging.
- Common variation in three genes, including a noncoding variant of CFH, strongly influences risk of age-related macular degeneration.
- Results further support the notion that CFH (complement factor H) and LOC387715 genes are the major risk factors for ARMD.
- study provides additional support for the CFH and LOC387715 genes in age-related maculopathy (ARM) susceptibility via the evaluation of cohorts that had different ascertainment schemes regarding ARM status and through the meta-analyses
- The C allele of Y402H represents a significant risk factor in individuals with AMD, and this effect is most pronounced in individuals with neovascular disease.
- Factor H domains 19-20 alone are capable of discriminating between host-like and complement-activating cells.
- Heterozygous CFH/CFHL1 hybrid gene in which exons 1-21 are derived from CFH and exons 22/23 from CFHL1 causing Hemolytic Uremic Syndrome.
- age-related macular degeneration(AMD) risk-conferring allele alters the binding properties of complement factor H gene (CFH), thereby leading to choroidal C-reactive protein deposition, contributing to AMD pathogenesis
- extracellular NS1 may function to minimize Soluble and cell-surface-associated nonstructural protein 1 binds to and recruits the complement regulatory protein factor H
- (Complement factor H)CFH gene polymorphism is not associated with AMD (age-related macular gegeneration) in the Japanese population.
- The CFH gene and Hemicentin-1 genes do not appear to be involved in a statistically significant fraction of dry AMD (age-related macular degeneration) cases in the Japanese population.
- Differences in association between CFH gene and exudative age-related macular degeneration(AMD) in Chinese from Caucasians and Japanese. SNP rs3753394 in CFH promoter carrying significantly increased risk for exudative AMD.
- Our data suggest that the CFH Tyr402His is not a major risk factor for overall early AMD (age-related macular degeneration) in this Latino population, but may play a role in susceptibility to phenotypes of early AMD likely to progress to late AMD.
- Data show the role of the factor H C-terminus in host cell recognition and protection.
- Mutant factor H causes defective complement control and in hemolytic uremic syndrome--particularly under condition of inflammation and complement activation-causes endothelial cell damage.
- results suggest that cigarette smoking and CFH T1277C polymorphism are independent risk factors for age-related macular degeneration (AMD) and that both risk factors are associated more strongly with neovascular AMD than all forms of AMD combined
- findings suggest that the combined effect of variants in the CFH and LOC 387715 genes may contribute to the age-related macular degeneration phenotype in this family
- complement control protein 6-8 is able to interact with DNA and necrotic cells, but in contrast the His-384 allotype binds these ligands more strongly than the Tyr-384 variant
- Complement factor H polymorphism T1277C (tyrosine-402 --> histidine-402) is strongly associated with both dry and wet age-related macular degeneration(AMD) and points to a possible role for inflammation in the pathogenesis of AMD.
- findings are consistent with evidence that, in addition to the widely described Y402H variant, there is at least one and, most probably, several other mutations in the CFH gene which determine disease manifestation in age-related macular degeneration
- Y402H polymorphism affects binding affinity to C-reactive protein; it could lead to an impaired targeting of FH to cellular debris and enhanced inflammation along the macular retinal pigmented epithelium-choroid interface
- causal link between H402Y and age-related macular degeneration in which variation at position 402 modulates the response of factor H to age-related changes in the glycosaminoglycan composition and apoptotic activity of the macula
- His402 allotype may self-associate more readily than the Tyr402 allotype, short complement regulator (SCR)-6/8 is partly responsible for the folded-back structure of intact FH, and SCR-6/8 changes conformation upon heparin binding.
- CFH genotype and allele frequencies were similar in cases and controls. These results do not support an involvement of common nonsynonymous polymorphisms of the CFH gene in predisposition to CAD and its complications
- Our data suggest that the CFH Y402H polymorphism is a major risk factor for exudative AMD in a Central European population.
- Factor H-like protein 1 (FHL-1), an alternative splice product of the CFH gene, is identified as an additional protein that includes risk residue 402 and confers risk for age-related macular degeneration.
- We identify and characterize a large, common deletion that encompasses both the CFHR1 and CFHR3 genes. The absence may account for the protective effects against age-related macular degeneration.
- The acquisition of factor H by pneumococci via PspC occurs via two contact sites located in SCR8-11 and SCR19-20, and factor H attached to the surface of the pneumococcus promotes adhesion to both host epithelial and endothelial cells.
- the CFH Y402H variant was significantly enriched in patients with predominantly classic CNV. Patients homozygous for the CFH Y402H genotype seem to have worse visual acuity after PDT.
- CFH Y402H was inversely associated with CHD among women, but not men. This inverse association was observed in both populations with earlier age of CHD.
- Oxidative stress modulates complement factor H expression in retinal pigmented epithelial cells by acetylation of FOXO3
- Adherence assays demonstrated that preincubation of Streptococcus pneumoniae with complement factor H (FH) increased adherence to human umbilical vein endothelial cells 5-fold and to lung epithelial cells 18-fold.
- A common variant (Y402H) of complement factor H was tested for differences in binding various ligands.
- N-glycan characterization of human complement factor H
- Complement factor H appear to play a role in both age-related macular degeneration and renal pathophysiology.
- The findings do not support the hypothesis that the His(402) allele is related to larger retinal venular diameters. The association with smaller retinal venular diameters most likely is a chance finding, because it was present only among never-smokers
- outcome of hemolytic uremic syndrome in patients with CFH mutation is catastrophic
- The Y402H CFH variant carried a significantly increased risk for developing AMD in our population.
- population-based study suggests that the combined presence of unfavorable CFH and CRP genetic profiles is associated with risk of MI.
- Replication of the association between the protective haplotypes and decreased AMD susceptibility provides increased evidence that these associations have biological meaning
- Both ARMS2 polymorphism and complement factor H polymorphism are independently associated with progression of age-related macular degeneration.
- Single nucleotide polymorphism of complement factor H gene indicates a greater risk of age-related macular degeneration.
- In this family-based study, we found no evidence of an association between variants of the CFH gene and early-onset coronary heart disease
- the binding of Factor H and C4bp to Aspergillus spp. appears to be even stronger than to Candida spp. and different, albeit possibly nearby, binding moieties mediate this surface attachment.
- Although the Y402H variant was not significantly associated with age-related macular degeneration (AMD), other coding and noncoding variants in the CFH gene including rs1410996 and smoking moderately influenced the risk of AMD in a Japanese population.
- Heterozygous R1215Q mutation is found in atypical hemolytic uremic syndrome, with incomplete penetrance of the disease.
- no clear impact of the CFH Y402H polymorphism on recent exudative age-related macular degeneration lesion characteristics
- Variant in this gene may modify susceptibility for late-onset Alzheimer's disease.
- The regulatory SCR-1/5 and cell surface-binding SCR-16/20 fragments of CFH reveal partially folded-back solution structures and self-associative properties.
- either lacked the CFHR1/CFHR3 completely (n = 14) or showed extremely low CFHR1/CFHR3 plasma levels (n = 2) are positive for factor H (CFH) autoantibodies
- The binding of factor H and factor H-like protein 1 (FHL-1) from human sera to Aspergillus fumigatus conidia was shown by adsorption assays and immunostaining.
- The dysfunction of the CFH related to the risk of age-related macular degeneration and caused by the Y402H polymorphism does not modify the outcome of photodynamic therapy.
- The Age-related macular degeneration associated complement factor H Y402H and LOC387715 A69S variants were associated with differences in choroidal neovascular lesion size in this study.
- The complement factor H, Y402H polymorphism is associated with peripheral reticular pigmentary change, suggesting that age-related macular degeneration changes are not limited to the macula.
- we have identified a functional interaction between Scl1 and plasma FH, which may contribute to GAS evasion of complement-mediated opsonization and phagocytosis.
- Polymorphisms in the complement factor H gene, LOC387715, and the HTRA1 promoter are strongly associated with age-related macular degeneration.
- The CFH 1277C allele may predispose patients for co-morbidity in Alzheimer disease and age-related macular degeneration.
- Independent of CFH genotype or smoking history, an individual's risk of AMD (age-related macular degeneration) could be increased or decreased, depending on their genotype or haplotype in the 10q26 region.
- important role of FH/FHL (Complement Factor H) in colon cancer cells defense against complement-mediated cytotoxicity, and in metastatic process.
- This demonstrates for the first time the existence of a gene environment-interaction between pathogenic load of C. pneumoniae and the CFH gene in the aetiology of AMD
- The CFH Y402H polymorphism showed a genotype-phenotype association for some drusen features. Additional genetic factors are likely to influence drusen phenotype.
- In Korean subjects, CFH polymorphism appears to be a considerable hereditary contributor to exudative age-related macular degeneration.
- The R1210C mutation is a prototypical atypical hemolytic uremic syndrome mutation that is present as a rare polymorphism in geographically separated human populations.
- The FH Y402H polymorphism associated with AMD (age-related macular degeneration) causes a reduction in binding of FH (factor H)and FHL-1 to CRP (c-reactive protein) and (atreptococcal M protein) M protein.
- mutated FH enables complement activation on the surface of platelets and their activation, which may contribute to the development of thrombocytopenia in Atypical hemolytic uremic syndrome.
- Direct-binding specificity of human factor H only to gonococci that prevent serum killing (i.e., Neisseria gonorrhoeae) is restricted to humans and may in part explain species-specific restriction of natural gonococcal infection.
- Association of the complement factor H Y402H polymorphism with cardiovascular disease is dependent upon hypertension status.
- A high impact of the additive effect of CFH and HTRA1 in the development of exudative AMD was shown. The HTRA1-smoking additive effect found in this study further suggests the importance of this environmental risk factor in AMD.
- These data recapitulate a prototypical complement genetic profile, including a partial factor H deficiency and the presence of major risk factors for age-related macular degeneration and membranoproliferative glomerulonephritis type II.
- Complement factor H polymorphisms associated with deleterious renal phenotypes and age-related macular degeneration.
- Possible association between occult or minimally classic choroidal neovascularization(CNV) and CFH polymorphism and between classic and predominantly classic CNV and HTRA1 polymorphism.
- Both VEGF +936 C/T and CFH Y402H polymorphisms are dependently associated with wet age-related macular degeneration in the Taiwan Chinese population.
- various conformational isoforms (native, amyloid fibrils, and beta-oligomers) of recombinant human PrP (90-231 and 121-231) bind C1q and activate complement.
- Kallikrein is responsible for the cleavage of factor H.
- The findings support prior evidence that the CFH gene is one of the AMD-associated genes. There is a different distribution pattern of CFH variants in the Chinese compared with other populations.
- The findings of this study indicate that an individual's response to age-related eye disease supplements may be related to complement factor H genotype.
- The present data provided an independent validation of the association of LOC387715 and HTRA1 SNPs, along with their risk estimates among Indian patients with AMD.
- our results showed that in Spanish patients with AMD the associations of both polymorphisms are not equal: Y402H is associated with early and wet AMD, whereas A69S is associated only with wet AMD.
- adding C2 to the two-factor model of CFH and LOC387715 increases the sensitivity (from 63% to 73%) of assessing risk of AMD
- The SNPs rs3753394 and rs800292 of CFH and rs11200638 of HTRA1 are significantly associated with the risk of PCV (polypoidal choroidal vasculopathy) in Chinese patients.
- This study confirmed associations of the Y402H CFH gene variant with age-related macular degeneration (AMD) in nonwhite populations, but neither explained the lack of association between inflammatory factors and AMD in the cohort
- H. influenzae interferes with the alternative complement activation pathway by binding FH and FHL-1
- Complement factor H variant p.Y402H is not a genetic risk factor for pseudoxanthoma elasticum.
- An abnormal control of the complement alternative pathway is a risk factor for the occurrence of HELLP syndrome.
- Both the HTRA1 and LOC387715/ARMS2 single nucleotide polymorphysms appear to contribute equally to disease risk (both geographic atrophy and choroidal neovascularization) with no evidence of interaction with CFH.
- The purpose of this study was to investigate the association of reported common single-nucleotide polymorphisms (SNPs) in CFH, LOC387715, and HTRA1 with exudative age-related macular degeneration in a northern Chinese population.
- If elevated serum/plasma levels of CRP are associated with neovascular age-related macular degeneration, it is likely not due to genetic variation within CRP, but likely due to variations in some other genetic as well as epidemiological factors.
- Findings from multiple samples support an AMD genetic variant harbored within HtrA1. The risk of advanced AMD increased when the presence of risk alleles from HtrA1 was combined with either CFH risk alleles or history of smoking.
- We did not find a positive association in high myopia. Based on these results, neither the Y402H nor the A69S single nucleotide polymorphisms seem to be involved in the choroid neovascularization process in high myopia patients.
- The aim of the present study was to estimate the frequency of the C allele of the CFH Y402H variant in an aged South African Black Xhosa population and to describe the evidence of ARMD (age-related maculopathy) found.
- Our study demonstrated that the presence of the Y402H polymorphism in complement factor H is significantly associated with increased susceptibility to early age-related macular degeneration in Taiwan Chinese.
- Complement factor H binds to denatured rather than to native pentameric C-reactive protein.
- analysis of a CFH/CFHL1 binding site within borrelial BbCRASP-2 and identified single amino acid residues potentially involved in the interaction with both complement regulators
- The Tyr402His variant of CFH is associated with neovascular age-related macular degeneration in Israel.
- CFH genotype for age-related macular degeneration is reportyed.
- Peripheral retinal drusen and reticular pigment are associated with CFHY402H and CFHrs1410996 genotypes, adjusting for age-related macular degeneration grade.
- No significant difference in incidence of CFH Y402H and HTRA1 rs11200638 between eyes with typical exudative age-related macular degeneration and with polypoidal choroidal vasculopathy.
- Zinc-induced FH self-association was studied by X-ray scattering and analytical ultracentrifugation to demonstrate uncontrolled FH oligomerisation.
- alpha(IIb)beta(3) provides a constitutive presence of factor H on platelets; activation of platelets increases platelet-bound factor which perhaps involves other binding sites for factor H on platelets.
- Like age-related macular degeneration, the multifocal choroiditis phenotype is strongly associated with the major alleles/haplotypes in the CFH locus.
- Neither the Y402H variant of complement factor H, nor mutations in the short consensus repeat domain 20 is associated with preeclampsia.
- The pathogenesis of the retinal dots and flecks in Alport syndrome is independent of CFH-dependent mechanisms and, like other clinical features, may depend on the nature of the underlying COL4A5 mutations.
- results demonstrate species specificity of binding of human fH to N. meningitidis; data underscore the importance of binding of human fH for survival of N. meningitidis in vitro and in vivo
- Evidence for gene-gene interaction between two major AMD associated loci CFH and LOC387715 was obtained using three methods, logistic regression, a synergy index and the mutual information (MI) index.
- Factor H regulatory activity is localized to surfaces that bind pentraxin-3, thus modulating alternative complement pathway activation and preventing excessive inflammatory response to tissue injury.
- A dose-dependent risk pattern for the association of CFH C alleles with the incidence of both early and late AMD was found.
- Sbi is a multifunctional bacterial protein, which binds host complement components Factor H and C3 as well as IgG and beta(2)-glycoprotein I and interferes with innate immune recognition.
- A factor H expressed fragment encompassing the carboxy-terminal polyanion binding site (complement control protein domains 18-20) exhibits polyanion-induced self-association and suggests that factor H carboxy-terminal ends mediate self-association.
- In a Han Chinese population, CFH polymorphisms appear to be independently and possibly additively hereditary contributors to exudative age-related macular degeneration.
- The nonsynonymous variant I62V is a plausible candidate for a causal polymorphism leading to the development of polypoidal choroidal vasculopathy.