Complement Factor H-Related 5 蛋白 (CFHR5)

Human Complement Factor H-Related 5 (CFHR5) interaction partners

1. Novel genetic rearrangement generated from a heterozygous deletion spanning 146 Kbp (显示 KIAA1279 蛋白) involving multiple CFHR genes leading to a CFHR1 (显示 CFHR1 蛋白)-R5 hybrid protein. This deletion was found in four family members presenting with a familial dominant glomerulopathy.

2. Higher serum FHR-5 levels were associated with a lack of response to immunosuppression, the presence of endocapillary hypercellularity, and histology scores of IgA nephropathy severity.

3. Our study found that rare variants in CFHR5 may contribute to the genetic susceptibility to IgA Nephropathy, which suggests that CFHR5 is an IgA Nephropathy susceptibility gene

4. Next-generation sequencing of the CFH (显示 CFH 蛋白) 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 (显示 CFH 蛋白)-related genes in the retina or RPE (显示 RPE 蛋白)/Choroid/Sclera, in contrast to the liver, which is the main source of the circulating proteins. [CFHR5]

5. Studies indicate that complement factor H (显示 CFH 蛋白)-related proteins (FHR1 (显示 CFHR1 蛋白)-5) may enhance complement activation, with important implications for the role of these proteins in disease.

6. In this study, we identify pentraxin 3 (PTX3 (显示 PTX3 蛋白)) as a novel ligand of CFHR5

7. At least two distinct intronic breakpoints within the CFHR5 gene can cause the same mutant CFHR5 protein and C3 glomerulopathy.

8. A hybrid CFHR2 (显示 CFHR2 蛋白)-CFHR5 plasma protein, arising from a chromosomal deletion mutation stabilizes the C3 convertase and reduces factor H (显示 CFH 蛋白)-mediated convertase decay.

9. Recent investigations in London and Cyprus culminated in the identification of another autosomal dominant condition that presents with microscopic haematuria because of heterozygous mutations in the CFHR5 gene--{review}

10. A potentially pathogenic sequence variation was found in CFHR5 in the patients with atypical hemolytic uremic syndrome.