C8 γ-polypeptide deficiency

C8 is composed of three polypeptide chains (alfa, beta, and gamma), each encoded by distinct genes. The three C8 genes are expressed in hepatocytes. Two types of C8 deficiency exist, and both result in loss of total hemolytic complement activity. C8 beta deficiency is more common in Caucasians and C8 alfa-gamma deficiency is more common in African-Americans.

Alternative names

C8C deficiency

Complement component C8 γ chain precursor

Classification

  • Defects of the classical complement cascade proteins
    • C8 deficiency

Inheritance

Autosomal recessive

OMIM

*120930 Complement component 8, gamma subunit; C8G

Incidence

Incidence is not known.