Property Summary

NCBI Gene PubMed Count 43
Grant Count 12
R01 Count 12
Funding $1,546,771.19
PubMed Score 27.78
PubTator Score 32.92

Knowledge Summary

Patent

No data available

Expression

Gene RIF (34)

PMID Text
27196323 Next-generation sequencing of the CFH region identified putatively functional variants (missense, splice site and indel) on the four common haplotypes. We found no expression of any of the five CFH-related genes in the retina or RPE/Choroid/Sclera, in contrast to the liver, which is the main source of the circulating proteins.[CFHR3]
26163426 These results suggest that the combination of quantitative and qualitative variations in the complement proteins encoded by CFH, CFHR3 and CFHR1 genes is key for the association of these haplotypes with disease.
25979655 Studies indicate that complement factor H-related proteins (FHR1-5) may enhance complement activation, with important implications for the role of these proteins in disease.
25205734 Genetic variants in CFH, CFHR3, and CFHR1 affect complement activation and thereby predispose patients to develop IgA nephropathy.
24557084 we have assessed the relationship between GA and previously identified AMD-associated variants of genes (CFH, CFB, C3, FHR1, FRH3, and ARMS2/HTRA).
24333077 Atypical haemolytic-uraemic syndrome due to heterozygous mutations of CFH/CFHR1-3 and complement factor H 479.
24088957 Prompt use of immunosuppressive agents and plasma exchanges are useful for improving outcomes in pediatric patients with anti-complement factor H-associated HUS.
22848687 genetic variations in CFH and its related genes may contribute to hypertension risk in Chinese Hans
22626820 A hybrid CFHR3-1 gene causes familial C3 glomerulopathy.
22558131 Significant association was identified for the CFHR3-1 deletion in age-related macular degeneration cases, for both neovascular disease and geographic atrophy.
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AA Sequence

MLLLINVILTLWVSCANGQVKPCDFPDIKHGGLFHENMRRPYFPVAVGKYYSYYCDEHFETPSGSYWDYI      1 - 70
HCTQNGWSPAVPCLRKCYFPYLENGYNQNYGRKFVQGNSTEVACHPGYGLPKAQTTVTCTEKGWSPTPRC     71 - 140
IRVRTCSKSDIEIENGFISESSSIYILNKEIQYKCKPGYATADGNSSGSITCLQNGWSAQPICINSSEKC    141 - 210
GPPPPISNGDTTSFLLKVYVPQSRVEYQCQPYYELQGSNYVTCSNGEWSEPPRCIHPCIITEENMNKNNI    211 - 280
KLKGRSDRKYYAKTGDTIEFMCKLGYNANTSILSFQAVCREGIVEYPRCE                        281 - 330
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Publication (44)

PMID Year Title
27196323 2016 Sequence and Expression of Complement Factor H Gene Cluster Variants and Their Roles in Age-Related Macular Degeneration Risk.
26163426 2015 Complement factor H, FHR-3 and FHR-1 variants associate in an extended haplotype conferring increased risk of atypical hemolytic uremic syndrome.
25979655 2015 Factor H-related proteins determine complement-activating surfaces.
25205734 2015 Variants in Complement Factor H and Complement Factor H-Related Protein Genes, CFHR3 and CFHR1, Affect Complement Activation in IgA Nephropathy.
24557084 2014 Growth of geographic atrophy on fundus autofluorescence and polymorphisms of CFH, CFB, C3, FHR1-3, and ARMS2 in age-related macular degeneration.
24333077 2014 Atypical haemolytic-uraemic syndrome due to heterozygous mutations of CFH/CFHR1-3 and complement factor H 479.
24088957 2014 Prompt plasma exchanges and immunosuppressive treatment improves the outcomes of anti-factor H autoantibody-associated hemolytic uremic syndrome in children.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23028341 2012 Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.
22848687 2012 Associations of CFH polymorphisms and CFHR1-CFHR3 deletion with blood pressure and hypertension in Chinese population.
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