CFH gene

The CFH gene provides instructions for producing complement factor H, a protein that regulates the immune system to protect healthy cells from damage.

Normal Function

The CFH gene provides instructions for making a protein called complement factor H. This protein regulates the complement system, a group of proteins that destroy foreign invaders like bacteria and viruses, trigger inflammation, and remove cellular debris. Because this system must be carefully controlled to avoid damaging healthy tissue, complement factor H acts as a regulator to prevent the system from activating when it is not needed.

Health Conditions Related to Genetic Changes

Age-related macular degeneration

Variants in and near the CFH gene are associated with an increased risk of age-related macular degeneration, a common cause of vision loss in older adults. This condition involves the buildup of yellowish deposits called drusen beneath the retina, leading to progressive loss of central vision.

• The Tyr402His polymorphism is a well-studied variant associated with increased risk.
• Carrying one copy of this polymorphism increases risk 2.5-fold, while two copies increase risk six-fold.

Atypical hemolytic-uremic syndrome

More than 100 mutations in the CFH gene have been identified in people with atypical hemolytic-uremic syndrome, which causes abnormal blood clots in small kidney blood vessels.

• Most mutations affect the C-terminal domain of the protein, resulting in a nonfunctional version of complement factor H.
• The resulting deficiency leads to uncontrolled complement activation, which damages endothelial cells in the kidneys, often leading to kidney failure.

C3 glomerulopathy

Mutations in the CFH gene can cause C3 glomerulopathy, a rare kidney disease that damages the glomeruli (tiny filtering blood vessels). This damage prevents the kidneys from filtering waste effectively and can lead to end-stage renal disease (ESRD).

Other disorders

Variations in the CFH gene, including the Tyr402His polymorphism, have been associated with basal laminar drusen (BLD), a condition characterized by drusen buildup starting in early adulthood.

Other Names for This Gene

• age-related maculopathy susceptibility 1
• AHUS1
• ARMD4
• ARMS1
• beta-1-H-globulin
• beta-1H
• C3b inactivator accelerator
• CFAH_HUMAN
• CFHL3
• factor H
• factor H-like 1
• FH
• FHL1
• H factor 1 (complement)
• H factor 2 (complement)
• HF
• HF1
• HF2
• HUS
• MGC88246

Genomic Location

The CFH gene is found on chromosome 1.