C5 Gene

Last updated on: 23.04.2022

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DefinitionThis section has been translated automatically.

The C5 gene (C5 stands for "Complement C5") is a protein coding gene located at chromosome 9q33.2. Alternative splicing results in multiple transcript variants.

The C5 gene encodes with the C5 component of the complement system, a complement component that plays an important role in inflammation and defense against pathogens.

General informationThis section has been translated automatically.

The complex C5 protein consists of the C5-alpha and -beta chains connected by a disulfide bridge. Activation of C5 by a C5 convertase initiates the spontaneous assembly of the late complement components, C5-C9, into the membrane attack complex (MAC).

C5b has a transient binding site for C6. The C5b-C6 complex is the basis for the assembly of the lytic complex.

C5a anaphylatoxin, derived from proteolytic degradation of complement C5, is a mediator of the local inflammatory process. Binding to the receptor C5AR1 triggers a number of responses, including release of intracellular calcium, smooth muscle contraction, increased vascular permeability, and release of histamine from mast cells and basophilic leukocytes. C5a is also a potent chemokine that stimulates the locomotion of polymorphonuclear leukocytes and directs their migration to sites of inflammation.

Clinical pictureThis section has been translated automatically.

Mutations in the C5 gene cause complement component 5 deficiency (C5 deficiency syndrome), a chronic disease characterized by recurrent bacterial infections.

LiteratureThis section has been translated automatically.

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  8. Sanghvi SY et al (2021) Leiner's disease (erythroderma desquamativum): A review and approach to therapy. Dermatol Ther 34:e14510.
  9. Shield JP et al (1992) Lethal congenital erythroderma: a newly recognized genetic disorder. Clin Genet 41: 273-277.
  10. Simon C et al (1965) Ueber ein unter dem Bild der Erythrodermia desquamativa Leiner verlaufenes toedliches Leiden bei drei Bruedern. Z. Pediatr. 94: 12-24.
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Last updated on: 23.04.2022