C8A : complement C8 alpha chain
Description
The C8A gene, located on chromosome 1, encodes for the alpha chain of the complement component 8 (C8) protein. C8 is a crucial part of the membrane attack complex (MAC), a key component of the complement system, which is a critical part of the innate immune system. The MAC forms pores in the membranes of invading pathogens, leading to their lysis and destruction. Mutations in the C8A gene can lead to deficiencies in C8 function, impairing the complement system‘s ability to effectively eliminate pathogens.
Associated Diseases
- Hereditary Angioedema (HAE): A rare genetic disorder characterized by recurrent episodes of swelling in the face, extremities, and internal organs.
- Recurrent Infections: Deficiencies in C8 can lead to increased susceptibility to infections, particularly bacterial infections.
- Autoimmune Diseases: Some studies suggest a possible association between C8A gene variants and autoimmune diseases like systemic lupus erythematosus (SLE).
- Neisseria Meningitidis Infections: C8 deficiencies are strongly associated with increased risk of severe infections caused by Neisseria meningitidis, a bacteria that can cause meningitis and sepsis.
Did you know?
C8 is a very large protein, composed of three subunits: alpha, beta, and gamma. The alpha chain, encoded by the C8A gene, is responsible for binding to the C5b-9 complex, forming the MAC.
