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GeneE
50 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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CFH
complement factor H
Chromosome 1 Β· 1q31.3
NCBI Gene: 3075Ensembl: ENSG00000000971.17HGNC: HGNC:4883UniProt: A0A0D9SG88
890PubMed Papers
24Diseases
0Drugs
218Pathogenic Variants
RESEARCH IMPACT
Highly StudiedTrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
inflammatory responsecomplement activation, alternative pathwaycentral nervous system myelinationregulation of complement activationcomplement factor H deficiencyage related macular degeneration 4Familial drusenage-related macular degeneration
✦AI Summary

Complement Factor H (CFH) is a key negative regulator of the alternative complement pathway that controls activation of complement component C3 1. CFH functions through multiple mechanisms: it binds heparin and C-reactive protein 2, regulates intracellular C3 levels in macrophages in a cell-autonomous manner 1, and attenuates TNF-Ξ±-induced inflammation by upregulating EIF3C 3. CFH is primarily expressed in monocytes and macrophages, where expression increases during inflammation 1. CFH variants are strongly associated with age-related macular degeneration (AMD), with the Y402H polymorphism representing a tyrosine-histidine change in the heparin-binding region that increases AMD risk 7.4-fold in homozygotes 2. CFH deficiency or mutations also predispose to atypical hemolytic uremic syndrome (aHUS), with >70% of aHUS cases harboring CFH mutations or disease-associated polymorphisms 4. CFH mutations in aHUS are associated with early disease onset and high mortality, though patients show variable response to plasma therapy depending on specific mutations 4. Additionally, CFH loss-of-function variants through CFHR5 modulation reduce AMD risk and correlate with enhanced complement activation capacity 5. These findings establish CFH as a critical regulator of complement-mediated inflammation relevant to multiple chr1 diseases.

Sources cited
1
CFH Y402H polymorphism increases AMD risk 7.4-fold; located in heparin and C-reactive protein binding region
PMID: 15761122
2
CFH negatively regulates C3 consumption; restricts complement activation; expressed in monocytes/macrophages; increases during inflammation; regulates cell-autonomous intracellular C3 levels
PMID: 37499656
3
>70% of aHUS cases have CFH mutations/polymorphisms; CFH mutations associated with earliest onset and highest mortality; variable plasma therapy response by mutation type
PMID: 20595690
4
CFH attenuates TNF-Ξ±-induced inflammation by upregulating EIF3C in rheumatoid arthritis
PMID: 37996918
5
CFHR5 variants modulating CFH locus reduce AMD risk; genetic reduction in FHR-5 correlates with higher complement activation capacity
PMID: 40593839
Disease Associationsβ“˜24
complement factor H deficiencyOpen Targets
0.75Strong
age related macular degeneration 4Open Targets
0.71Strong
Familial drusenOpen Targets
0.71Strong
age-related macular degenerationOpen Targets
0.70Moderate
atypical hemolytic-uremic syndromeOpen Targets
0.66Moderate
dense deposit diseaseOpen Targets
0.58Moderate
macular degenerationOpen Targets
0.57Moderate
retinopathyOpen Targets
0.56Moderate
atypical hemolytic-uremic syndrome with H factor anomalyOpen Targets
0.55Moderate
Immunodeficiency due to a complement cascade protein anomalyOpen Targets
0.54Moderate
degeneration of macula and posterior poleOpen Targets
0.53Moderate
wet macular degenerationOpen Targets
0.50Moderate
complement 3 glomerulopathyOpen Targets
0.50Moderate
Retinal dystrophyOpen Targets
0.49Moderate
complement deficiencyOpen Targets
0.46Moderate
Visual impairmentOpen Targets
0.45Moderate
IGA glomerulonephritisOpen Targets
0.44Moderate
dry age related macular degenerationOpen Targets
0.42Moderate
COVID-19Open Targets
0.40Weak
atypical hemolytic-uremic syndrome with I factor anomalyOpen Targets
0.39Weak
Basal laminar drusenUniProt
Complement factor H deficiencyUniProt
Hemolytic uremic syndrome, atypical, 1UniProt
Macular degeneration, age-related, 4UniProt
Pathogenic Variants218
NM_000186.4(CFH):c.1873G>T (p.Glu625Ter)Pathogenic
not provided|Age related macular degeneration 4;Hemolytic uremic syndrome, atypical, susceptibility to, 1;Basal laminar drusen;Factor H deficiency|Factor H deficiency|Atypical hemolytic-uremic syndrome|Malignant tumor of urinary bladder
β˜…β˜…β˜†β˜†2025β†’ Residue 625
NM_000186.4(CFH):c.213G>A (p.Trp71Ter)Pathogenic
not provided|Factor H deficiency;Age related macular degeneration 4;Hemolytic uremic syndrome, atypical, susceptibility to, 1;Basal laminar drusen|Factor H deficiency|CFH-related disorder|Atypical hemolytic-uremic syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 71
NM_000186.4(CFH):c.157C>T (p.Arg53Cys)Pathogenic
not provided|Hemolytic uremic syndrome, atypical, susceptibility to, 1|Factor H deficiency;Hemolytic uremic syndrome, atypical, susceptibility to, 1;Age related macular degeneration 4;Basal laminar drusen|Factor H deficiency|Factor H deficiency;Atypical hemolytic-uremic syndrome;Age related macular degeneration 4
β˜…β˜…β˜†β˜†2025β†’ Residue 53
NM_000186.4(CFH):c.619+1G>APathogenic
not provided|Basal laminar drusen;Atypical hemolytic-uremic syndrome
β˜…β˜…β˜†β˜†2025
NM_000186.4(CFH):c.694C>T (p.Arg232Ter)Pathogenic
not provided|Factor H deficiency|Atypical hemolytic-uremic syndrome;Basal laminar drusen;Factor H deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 232
NM_000186.4(CFH):c.1707C>A (p.Cys569Ter)Pathogenic
Atypical hemolytic-uremic syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 569
NM_000186.4(CFH):c.3643C>T (p.Arg1215Ter)Pathogenic
Age related macular degeneration 4;Hemolytic uremic syndrome, atypical, susceptibility to, 1;Factor H deficiency;Basal laminar drusen|Atypical hemolytic-uremic syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 1215
NM_000186.4(CFH):c.1243del (p.Ala415fs)Pathogenic
not provided|Atypical hemolytic-uremic syndrome;Basal laminar drusen
β˜…β˜…β˜†β˜†2025β†’ Residue 415
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu)Pathogenic
Hemolytic uremic syndrome, atypical, susceptibility to, 1|not provided|Age related macular degeneration 4;Hemolytic uremic syndrome, atypical, susceptibility to, 1;Factor H deficiency;Basal laminar drusen|Factor H deficiency|CFH-related disorder|Atypical hemolytic-uremic syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 1191
NM_000186.4(CFH):c.3356A>G (p.Asp1119Gly)Likely pathogenic
not provided|Atypical hemolytic-uremic syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 1119
NM_000186.4(CFH):c.1833C>A (p.Cys611Ter)Pathogenic
Basal laminar drusen;Atypical hemolytic-uremic syndrome;Factor H deficiency;Age related macular degeneration 4|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 611
NM_000186.4(CFH):c.3644G>T (p.Arg1215Leu)Likely pathogenic
Atypical hemolytic-uremic syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 1215
NM_000186.4(CFH):c.3676C>T (p.Pro1226Ser)Pathogenic
not provided|Atypical hemolytic-uremic syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 1226
NM_000186.4(CFH):c.1520-1G>APathogenic
not provided|Atypical hemolytic-uremic syndrome
β˜…β˜…β˜†β˜†2025
NM_000186.4(CFH):c.3548G>T (p.Trp1183Leu)Pathogenic
Factor H deficiency|Atypical hemolytic-uremic syndrome;Factor H deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 1183
NM_000186.4(CFH):c.3493+1G>APathogenic
not provided|Atypical hemolytic-uremic syndrome|Atypical hemolytic-uremic syndrome;Factor H deficiency
β˜…β˜…β˜†β˜†2025
NM_000186.4(CFH):c.3646ACA[1] (p.Thr1217del)Likely pathogenic
not provided|Atypical hemolytic-uremic syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 1217
NM_000186.4(CFH):c.740del (p.Gly247fs)Likely pathogenic
not provided|Basal laminar drusen;Atypical hemolytic-uremic syndrome;Factor H deficiency;Age related macular degeneration 4
β˜…β˜…β˜†β˜†2025β†’ Residue 247
NM_000186.4(CFH):c.1337-2A>GLikely pathogenic
Age related macular degeneration 4;Basal laminar drusen;Hemolytic uremic syndrome, atypical, susceptibility to, 1;Factor H deficiency|not provided
β˜…β˜…β˜†β˜†2025
NM_000186.4(CFH):c.139del (p.Gln47fs)Likely pathogenic
Hemolytic uremic syndrome, atypical, susceptibility to, 1;Basal laminar drusen;Age related macular degeneration 4;Factor H deficiency|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 47
View on ClinVar β†—
Related Genes
C1RProtein interaction100%CRPProtein interaction100%ERV3-1Protein interaction100%FCN1Protein interaction100%FCN2Protein interaction100%CFPProtein interaction100%
Tissue Expression6 tissues
Liver
100%
Ovary
17%
Heart
12%
Lung
6%
Brain
1%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
CFHC1RCRPERV3-1FCN1FCN2CFP
PROTEIN STRUCTURE
Preparing viewer…
PDB4K12 Β· 1.08 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.43Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.33 [0.26–0.43]
RankingsWhere CFH stands among ~20K protein-coding genes
  • #199of 20,598
    Most Researched890 Β· top 1%
  • #302of 5,498
    Most Pathogenic Variants218 Β· top 10%
  • #2,308of 17,882
    Most Constrained (LOEUF)0.43 Β· top quartile
Genes detectedCFH
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
Complement factor H polymorphism in age-related macular degeneration.
PMID: 15761122
Science Β· 2005
1.00
2
Cell-autonomous regulation of complement C3 by factor H limits macrophage efferocytosis and exacerbates atherosclerosis.
PMID: 37499656
Immunity Β· 2023
0.90
3
Gene-gene interactions of CFH and LOC387715/ARMS2 with Korean exudative age-related macular degeneration patients.
PMID: 23289807
Ophthalmic Genet Β· 2013
0.84
4
Relationship between rs1410996 polymorphism of CFH gene and essential hypertension patients of Han from Yunnan Province.
PMID: 39105829
Mol Biol Rep Β· 2024
0.82
5
Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype.
PMID: 20595690
Clin J Am Soc Nephrol Β· 2010
0.80