CFH Gene

Last updated on: 26.04.2022

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DefinitionThis section has been translated automatically.

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

associated.

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

General informationThis section has been translated automatically.

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.

Note(s)This section has been translated automatically.

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.

LiteratureThis section has been translated automatically.

  1. Abrera-Abeleda MA et al (2006) Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease). J Med Genet 43: 582-589.
  2. Ault BH et al (1997) Human factor H deficiency: mutations in framework cysteine residues and block in H protein secretion and intracellular catabolism. J Biol Chem 272: 25168-25175.
  3. Ault BH (2000) Factor H and the pathogenesis of renal diseases. Pediat Nephrol 14: 1045-1053.
  4. Ito N et al (2017) C3 glomerulopathy and current dilemmas. Clin Exp Nephrol 21: 541-551.
  5. Licht C et al.(2006) Deletion of lys224 in regulatory domain 4 of factor H reveals a novel pathomechanism for dense deposit disease (MPGN II). Kidney Int 70: 42-50.
  6. Riedl M et al (2017) C3 glomerulopathy. Pediat. Nephrol. 32: 43-57.
  7. Vogt BA et al.(1995) Inherited factor H deficiency and collagen type III glomerulopathy. Pediat. Nephrol 9: 11-15.
  8. Welch TR (2002) Complement in glomerulonephritis. Nature Genet. 31: 333-334.
  9. Wong EKS et al (20187) Diseases of complement dysregulation--an overview. Semin. Immunopath. 40: 49-64.

Last updated on: 26.04.2022