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.
