CFH Gene

The CFH gene (CFH stands for "complement factor H") is a protein-coding gene located at chromosome 1q31.3. Alternative transcriptional splice variants encoding different isoforms have been identified.The CFH gene (CFH stands for "Complement Factor H") is a protein coding gene localized to chromosome 1q31.3. Alternative transcriptional splice variants encoding different isoforms have been identified.

The CFH gene belongs to the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. The encoded protein is secreted into the bloodstream and plays an essential role in regulating complement activation, limiting this innate defense mechanism to microbial infections.

Mutations in this gene are associated with

• atypical hemolytic uremic syndrome (HUS)

and

• Membranoproliferative glomerulonephritis type II (OMIM: 609814) (see also complement factor H deficiency; see also under Membranoproliferative glomerulonephritis)

associated.

Associated pathways include the innate immune system and the immune response lectin-induced complement pathway (see below Complement System).

The glycoprotein encoded by the CFH gene, plays an essential role in maintaining a balanced immune response by modulating complement activation. The protein acts as a soluble complement inhibitor. It accelerates the decay of the C3 convertase C3bBb of the alternative complement (AP) pathway, preventing the local formation of more C3b, the central player in the complement amplification loop.

As a cofactor of serine protease factor I, CFH also regulates proteolytic degradation of previously deposited C3b. In addition, it mediates several cellular responses by interacting with specific receptors. For example, it interacts with the CR3/ITGAM receptor, thereby mediating the attachment of neutrophil granulocytes to various pathogens. In turn, these pathogens are phagocytosed and destroyed.

The glycoprotein encoded by the CFH gene, plays an essential role in maintaining a balanced immune response by modulating complement activation. The protein acts as a soluble complement inhibitor. It accelerates the decay of the C3 convertase C3bBb of the alternative complement (AP) pathway, preventing the local formation of more C3b, the central player in the complement amplification loop.

As a cofactor of serine protease factor I, CFH also regulates proteolytic degradation of previously deposited C3b. In addition, it mediates several cellular responses by interacting with specific receptors. For example, it interacts with the CR3/ITGAM receptor, thereby mediating the attachment of neutrophil granulocytes to various pathogens. In turn, these pathogens are phagocytosed and destroyed.

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