XB-FEAT-22164548: Difference between revisions

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Created page with "=C5.2= =nomenclature changes= 02.25.20 name changed from 'complement component 5 gene 2' to 'complement C5 gene 2', following human nomenclature. Note that the human genome on..."
 
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Latest revision as of 10:15, 26 February 2020

C5.2

nomenclature changes

02.25.20 name changed from 'complement component 5 gene 2' to 'complement C5 gene 2', following human nomenclature. Note that the human genome only has one copy of this C5 gene, and both Xenopus laevis genes are orthologues of human C5.

Summary for human C5 from NCBI

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]