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Might be involved in complement regulation.
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Studies indicate an association between CFHR2-rs2986127 and acute anterior uveitis (AAU) diagnosis.
Next-generation sequencing of the CFH (Montrer CFH Anticorps) 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 (Montrer CFH Anticorps)-related genes in the retina or RPE (Montrer RPE Anticorps)/Choroid/Sclera, in contrast to the liver, which is the main source of the circulating proteins. [CFHR2]
Studies indicate that complement factor H (Montrer CFH Anticorps)-related proteins (FHR1 (Montrer CFHR1 Anticorps)-5) may enhance complement activation, with important implications for the role of these proteins in disease.
Atypical haemolytic-uraemic syndrome due to heterozygous mutations of CFH (Montrer CFH Anticorps)/CFHR1 (Montrer CFHR1 Anticorps)-3 and complement factor H (Montrer CFH Anticorps) 479.
Thus CFHR2 likely acts in concert with factor H (Montrer CFH Anticorps), as CFHR2 inhibits convertases while simultaneously allowing factor H (Montrer CFH Anticorps) assisted degradation by factor I.
A hybrid CFHR2-CFHR5 (Montrer CFHR5 Anticorps) plasma protein, arising from a chromosomal deletion mutation stabilizes the C3 convertase and reduces factor H (Montrer CFH Anticorps)-mediated convertase decay.
Might be involved in complement regulation. Can associate with lipoproteins and may play a role in lipid metabolism.
, H factor (complement)-like 3
, complement factor H-related protein 2
, factor H-related gene 2
, h factor-like 3
, h factor-like protein 2