Complement component 5

From WikiProjectMed
Jump to navigation Jump to search
C5
C5.png
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesC5, C5D, C5a, C5b, CPAMD4, ECLZB, complement component 5, complement C5
External IDsOMIM: 120900 MGI: 96031 HomoloGene: 20412 GeneCards: C5
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001735
NM_001317163
NM_001317164

NM_010406

RefSeq (protein)

NP_001304092
NP_001304093
NP_001726

NP_034536

Location (UCSC)Chr 9: 120.93 – 121.08 MbChr 2: 34.87 – 34.95 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Complement component 5 is a protein that in humans is encoded by the C5 gene.[5]

Complement component 5 is involved in the complement system. It is cleaved into C5a and C5b:

Deficiency is thought to cause Leiner's disease.

Function

Complement component 5 is the fifth component of complement, which plays an important role in inflammatory and cell killing processes. This protein is composed of alpha and beta polypeptide chains that are linked by a disulfide bridge. An activation peptide, C5a, which is an anaphylatoxin that possesses potent spasmogenic and chemotactic activity, is derived from the alpha polypeptide via cleavage with a C5-convertase. The C5b macromolecular cleavage product can form a complex with the C6 complement component, and this complex is the basis for formation of the membrane attack complex, which includes additional complement components.[5]

Clinical significance

Mutations in this gene cause complement component 5 deficiency, a disease where patients show a propensity for severe recurrent infections. Defects in this gene have also been linked to a susceptibility to liver fibrosis and to rheumatoid arthritis.[5]

Therapeutic applications

The drug eculizumab (trade name Soliris) prevents cleavage of C5 into C5a and C5b.[7]

Complement system pathway

Membrane attack complex.

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000106804 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026874 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b c "C5 complement C5 (Homo sapiens (human)) Gene ID: 727". www.ncbi.nlm.nih.gov. 29 November 2020. Retrieved 9 December 2020.
  6. ^ Immunology at MCG 1/phagocyt[dead link]
  7. ^ Dubois E, Cohen A (2009). "Eculizumab". Br J Clin Pharmacol. 68 (3): 318–319. doi:10.1111/j.1365-2125.2009.03491.x. PMC 2766470. PMID 19740388.

Further reading

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.