Complement component C3
The gene C3 encodes a crucial complement component. Loss-of-function mutations result in autosomal recessive C3 deficiency whereas gain-of-function mutations have been observed in atypical HUS. Some polymorphisms have been associated with age-related macula degeneration.
Genetests:
Related Diseases:
References:
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Botto M et al. (1990) Molecular basis of polymorphisms of human complement component C3.
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Nürnberger J et al. (2009) Eculizumab for atypical hemolytic-uremic syndrome.
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Brown KM et al. (2006) Influence of donor C3 allotype on late renal-transplantation outcome.
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Yates JR et al. (2007) Complement C3 variant and the risk of age-related macular degeneration.
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Maller JB et al. (2007) Variation in complement factor 3 is associated with risk of age-related macular degeneration.
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Fang CJ et al. (2008) Membrane cofactor protein mutations in atypical hemolytic uremic syndrome (aHUS), fatal Stx-HUS, C3 glomerulonephritis, and the HELLP syndrome.
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Loirat C et al. (2008) Complement and the atypical hemolytic uremic syndrome in children.
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Orphanet article
Orphanet ID 160064
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NCBI article
NCBI 718
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OMIM.ORG article
Omim 120700
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Wikipedia article
Wikipedia EN (Complement_component_3)
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Update: Aug. 14, 2020