Hierfür ist eine Anmeldung erforderlich. Bitte registrieren Sie sich bei uns oder melden Sie sich mit Ihren Zugangsdaten an.
DefinitionThis section has been translated automatically.
The C8A gene (C8A stands for "Complement C8 Alpha Chain") is a protein coding gene located at chromosome 1p32.2.
C8 is a component of the complement system and consists of three polypeptides:
- alpha Chain
- beta chain
- gamma Chain.
The C8A gene encodes the alpha 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 of the complement component C8.
Clinical pictureThis section has been translated automatically.
Diseases associated with C8A include complement component 8 deficiency, type I.
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.
- Tedesco F et al (1990) Two distinct abnormalities in patients with C8-alpha-gamma deficiency: low level of C8-beta chain and presence of dysfunctional C8-alpha-gamma subunit. J Clin Invest 86: 884-888.
