complement C3
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A C3 gene provides instructions for making a protein called complement component 3 (or C3). This protein plays a key role in a part of the body's immune response known as the complement system. The complement system is a group of proteins that work together to destroy foreign invaders (such as bacteria and viruses), trigger inflammation, and remove debris from cells and tissues.
Normal function
A C3 gene provides instructions for making a protein called complement component 3 (or C3). This protein plays a key role in a part of the body's immune response known as the complement system. The complement system is a group of proteins that work together to destroy foreign invaders (such as bacteria and viruses), trigger inflammation, and remove debris from cells and tissues.
The C3 protein is essential for turning on (activating) the complement system. The presence of foreign invaders triggers the C3 protein to be cut (cleaved) into two smaller pieces. One of these pieces, called C3b, interacts with several other proteins on the surface of cells to trigger the complement system's response. This process must be carefully regulated so the complement system targets only unwanted materials and does not damage the body's healthy cells.
Researchers have identified two major forms (allotypes) of the C3 protein, which are known as C3S and C3F. In the general population, C3S is more common than C3F. The two allotypes differ by a single protein building block (amino acid), although it is unclear whether they function differently.
Conditions referring to this gene or chromosome
Other names
acylation-stimulating protein cleavage product
AHUS5
ARMD9
ASP
C3 and PZP-like alpha-2-macroglobulin domain-containing protein 1
C3a
C3b
CO3_HUMAN
complement component 3
CPAMD1
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Leitura adicional e referências
- complement C3; MedlinePlus, National Library of Medicine.
- Martinez-Barricarte R, Heurich M, Valdes-Canedo F, Vazquez-Martul E, Torreira E, Montes T, Tortajada A, Pinto S, Lopez-Trascasa M, Morgan BP, Llorca O, Harris CL, Rodriguez de Cordoba S. Human C3 mutation reveals a mechanism of dense deposit disease pathogenesis and provides insights into complement activation and regulation. J Clin Invest. 2010 Oct;120(10):3702-12. doi: 10.1172/JCI43343. Epub 2010 Sep 13.
- Okura Y, Kobayashi I, Yamada M, Sasaki S, Yamada Y, Kamioka I, Kanai R, Takahashi Y, Ariga T. Clinical characteristics and genotype-phenotype correlations in C3 deficiency. J Allergy Clin Immunol. 2016 Feb;137(2):640-644.e1. doi: 10.1016/j.jaci.2015.08.017. Epub 2015 Oct 4. No abstract available.
- Xiao X, Pickering MC, Smith RJ. C3 glomerulopathy: the genetic and clinical findings in dense deposit disease and C3 glomerulonephritis. Semin Thromb Hemost. 2014 Jun;40(4):465-71. doi: 10.1055/s-0034-1376334. Epub 2014 May 5.
- Zipfel PF, Skerka C, Chen Q, Wiech T, Goodship T, Johnson S, Fremeaux-Bacchi V, Nester C, de Cordoba SR, Noris M, Pickering M, Smith R. The role of complement in C3 glomerulopathy. Mol Immunol. 2015 Sep;67(1):21-30. doi: 10.1016/j.molimm.2015.03.012. Epub 2015 Apr 28.
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