CFI : complement factor I

Description

The CFI (complement factor I) is a protein-coding gene located on chromosome 4.

The CFI gene provides instructions for making a protein called complement factor I, which plays a crucial role in regulating the body's immune response, specifically the complement system. The complement system is a group of proteins that work together to defend against foreign invaders like bacteria and viruses, trigger inflammation, and clear cellular debris. Complement factor I, along with related proteins, protects healthy cells by preventing the complement system from becoming inappropriately activated and attacking the body's own tissues.

CFI is a trypsin-like serine protease that plays a critical role in regulating the immune response by controlling all complement pathways. It inhibits these pathways by cleaving specific peptide bonds in the alpha-chains of C3b and C4b, thereby inactivating these proteins. This process requires the presence of cofactors, such as factor H and C4BP in the fluid phase and membrane cofactor protein/CD46 and CR1 on cell surfaces. The presence of these cofactors on healthy cells allows CFI to degrade deposited C3b, preventing undesired complement activation. However, in apoptotic cells or microbes, the absence of these cofactors leads to C3b-mediated complement activation and subsequent opsonization.

CFI is also known as AHUS3, ARMD13, C3BINA, C3b-INA, FI, IF, KAF.

Associated Diseases

Comprehensive carrier screening

WES Whole Exome Sequencing

Clinical Exome Sequencing