CFH

Description

The CFH gene, located on chromosome 1, codes for the complement factor H protein. This protein plays a crucial role in regulating the complement system, a crucial part of the innate immune response. The complement system helps identify and eliminate pathogens, but it needs to be tightly controlled to prevent damage to healthy tissues. CFH acts as a brake on the complement cascade, preventing overactivation and potential autoimmune reactions. Variations in the CFH gene are linked to several diseases, particularly those affecting the eyes, kidneys, and cardiovascular system.

Associated Diseases

• Age-related macular degeneration (AMD)
• Membranoproliferative glomerulonephritis (MPGN)
• Atypical hemolytic uremic syndrome (aHUS)
• Systemic lupus erythematosus (SLE)
• Cardiovascular disease

Did you know?

Mutations in the CFH gene can lead to a rare condition called ‘dense deposit disease‘, characterized by the accumulation of complement proteins in the kidneys.