DefinitionThis section has been translated automatically.
The C8B gene (C8B stands for "Complement C8 BetaChain") is a protein-coding gene located at chromosome 1p32.2. Alternative splicing results in multiple transcript variants.
C8 consists of equimolar amounts of the alpha, beta and gamma subunits encoded by three different genes.
- alpha Chain
- beta Chain
- gamma Chain.
General informationThis section has been translated automatically.
The C8B gene encodes the beta segment of C8. Complement component C8 is involved in the formation of the membrane attack complex (MAC), which plays a key role in the innate and adaptive immune response. MAC attaches to bacterial membranes and forms a pore that allows disruption of bacterial membrane organization.
Mutations in this gene cause a deficiency in complement C8, leading to dysfunction in the membrane attack complex. In humans, deficiency of this complement component is associated with an increased risk of meningococcal infection.
Diseases associated with C8B include C8 deficiency, type 2.
LiteratureThis section has been translated automatically.
- Fukumori Y et al.(1998) Terminal complement component deficiencies in Japan. Exp. Clin. Immunogenet 15: 244-248.
- Kaufmann T et al (1993) Genetic basis of human complement C8 beta deficiency. J Immunol 150:4943-4947.
- Kojima T et al (1998) Genetic basis of human complement C8 alpha-gamma deficiency. J Immun 161: 3762-3766.
