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Gene : C5 Homo sapiens

Name  ? complement C5 Cytological Location  9q33.2
Brief Description  complement C5
Description  This gene encodes a component of the complement system, a part of the innate immune system that plays an important role in inflammation, host homeostasis, and host defense against pathogens. The encoded preproprotein is proteolytically processed to generate multiple protein products, including the C5 alpha chain, C5 beta chain, C5a anaphylatoxin and C5b. The C5 protein is comprised of the C5 alpha and beta chains, which are linked by a disulfide bridge. Cleavage of the alpha chain by a convertase enzyme results in the formation of the C5a anaphylatoxin, which possesses potent spasmogenic and chemotactic activity, and the C5b macromolecular cleavage product, a subunit of the membrane attack complex (MAC). Mutations in this gene cause complement component 5 deficiency, a disease characterized by recurrent bacterial infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]
  • synonyms:
  • C5D,
  • M57729,
  • OTTHUMG00000020579,
  • complement component 5,
  • prepro-C5,
  • C5b,
  • C5,
  • C5b,
  • CPAMD4,
  • NM_001735,
  • C5a anaphylatoxin,
  • CPAMD4,
  • C5a,
  • HGNC:1331,
  • C5a,
  • uc004bkv.4,
  • ECLZB
  • identifiers:
  • 727,
  • ENSG00000106804,
  • C5

Genome feature

Region: gene ? Length: 122531  
Location: 9:120952335-121074865 reverse strand Cyto location: 9q33.2


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Disease

2 Diseases

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3753 SN Ps

5 Cross References

20 Data Sets

11 Homologues

0 Located Features

97 Rna Seq Results