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C5

MIM.120900 9q34.1

C5 is a 190-kD glycoprotein comprised of 2 disulfide-linked polypeptide chains, alpha (C5a) and beta (C5b), with a molecular mass of 155 and 75 kD, respectively.

Pathology

- germline mutations in C5 deficiency (MIM.609536)

- C5 (Complement factor 5) gene variants in susceptibility to hepatic fibrosis

References

- Hillebrandt S, Wasmuth HE, Weiskirchen R, Hellerbrand C, Keppeler H, Werth A, Schirin-Sokhan R, Wilkens G, Geier A, Lorenzen J, Kohl J, Gressner AM, Matern S, Lammert F. Complement factor 5 is a quantitative trait gene that modifies liver fibrogenesis in mice and humans. Nat Genet. 2005 Aug;37(8):835-43. PMID: 15995705