A mutation in CHFR5 was found in patients with the disease
CFHR5 nephropathy, which is a common cause of renal disease in
Cyprus. The mutated form of the protein found in patients with this disease has impaired ability to bind to complement C3, suggesting that CFHR5 is important in protecting the kidneys from attack by the
complement system.[7]
Närkiö-Mäkelä M, Hellwage J, Tahkokallio O, Meri S (2001). "Complement-regulator factor H and related proteins in otitis media with effusion". Clin. Immunol. 100 (1): 118–26.
doi:
10.1006/clim.2001.5043.
PMID11414752.
Murphy B, Georgiou T, Machet D, et al. (2002). "Factor H-related protein-5: a novel component of human glomerular immune deposits". Am. J. Kidney Dis. 39 (1): 24–7.
doi:
10.1053/ajkd.2002.29873.
PMID11774097.
A mutation in CHFR5 was found in patients with the disease
CFHR5 nephropathy, which is a common cause of renal disease in
Cyprus. The mutated form of the protein found in patients with this disease has impaired ability to bind to complement C3, suggesting that CFHR5 is important in protecting the kidneys from attack by the
complement system.[7]
Närkiö-Mäkelä M, Hellwage J, Tahkokallio O, Meri S (2001). "Complement-regulator factor H and related proteins in otitis media with effusion". Clin. Immunol. 100 (1): 118–26.
doi:
10.1006/clim.2001.5043.
PMID11414752.
Murphy B, Georgiou T, Machet D, et al. (2002). "Factor H-related protein-5: a novel component of human glomerular immune deposits". Am. J. Kidney Dis. 39 (1): 24–7.
doi:
10.1053/ajkd.2002.29873.
PMID11774097.