C8B : complement C8 beta chain

Description

The C8B gene, located on chromosome 1, encodes the beta chain of the complement component 8 (C8) protein. C8 is a crucial component of the complement system, a complex cascade of proteins that plays a vital role in the immune system‘s defense against pathogens. C8B, along with its partner C8A, forms a complex that binds to the C5b-C7 complex, forming the membrane attack complex (MAC). The MAC is responsible for lysing target cells by creating pores in their membranes. Defects in the C8B gene can lead to various immune deficiencies and increased susceptibility to infections.

Associated Diseases

• Hereditary angioedema (HAE)
• Paroxysmal nocturnal hemoglobinuria (PNH)
• Recurrent bacterial infections
• Immune complex-mediated diseases

Did you know?

Mutations in the C8B gene can lead to an unusual condition known as C8 deficiency, which results in a compromised ability to form the membrane attack complex, leaving individuals vulnerable to infections.