Complement Factor H

Alternative Names

  • CFH
  • H Factor 1
  • HF1
  • Factor H
  • HF
  • Factor H-Like 1
  • FHL1
  • Complement Factor H-Like 1
  • CFHL1
Back to search Result
OMIM Number

134370

NCBI Gene ID

3075

Uniprot ID

P08603

Length

95,627 bases

No. of Exons

25

No. of isoforms

2

Protein Name

Complement Factor H

Molecular Mass

139096 Da

Amino Acid Count

1231

Genomic Location

chr1:196,652,032-196,747,503

Gene Map Locus
1q31.3

Description

Complement Factor H (CFH) is a serum glycoprotein with a molecular weight of 155 kD. CFH is synthesized abundantly in the liver. It is also synthesized in endothelium, macrophages, platelets, leukocytes, and several other cell types. CFH is a down-regulating protein of the alternative pathway in the complement system. CFH controls the alternative pathway in the complement system by binding C3b (C3 convertase), thereby preventing the formation of the C3 convertase complex and accelerating the dissociation of Bb from the active C3 convertase. CFH is also a cofactor for factor I (C3b inactivator) and can distinguish between activator and non-activator surfaces.

CFH deficiency has been associated with an increased tendency for several diseases, including systemic lupus erythematosus, pyogenic infection susceptibility, type II membranoproliferative glomerulonephritis, a form of chronic collagen type III glomerulopathy, and atypical familial hemolytic-uremic syndrome (HUS).

 

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000186.4:c.3572C>TPalestineNC_000001.11:g.196747189C>TPathogenic, Risk factorPathogenicHemolytic Uremic Syndrome, Atypical, Susceptibility to, 1NG_007259.1:g.100179C>T; NM_000186.4:c.3572C>T; NP_000177.2:p.Ser1191Leu46089716545
NM_000186.4:c.3677_*4delPalestinechr1:196747294-196747317PathogenicPathogenicHemolytic Uremic Syndrome, Atypical, Susceptibility to, 1NG_007259.1:g.100284_100307del; NM_000186.4:c.3677_*4del; NP_000177.2:p.Pro1226_Ter1232delinsXaa79605213616546
© CAGS 2024. All rights reserved.