C6

Description

The C6 gene encodes a protein known as complement component 6, a crucial component of the complement system, a critical part of the innate immune system. This system helps defend the body against infections by recognizing and destroying pathogens. C6 protein plays a vital role in the formation of the membrane attack complex (MAC), a structure that punches holes in the membranes of invading microbes, leading to their lysis and destruction. Mutations in the C6 gene can lead to deficiencies in the complement system, increasing susceptibility to infections.

Associated Diseases

• Hereditary Angioedema
• Meningococcal Disease
• Neisseria gonorrhoeae Infections
• Systemic Lupus Erythematosus
• Paroxysmal Nocturnal Hemoglobinuria

Did you know?

C6 gene mutations are rare, but they can have severe consequences for individuals, increasing their risk of serious infections.