Information on CFH
Basic details
Alt. symbols: HF | HF1 | HF2 | HUS | FHL1 | ARMS1 | ARMD4
Approved name: complement factor H
Alt. names: H factor 1 (complement) | beta-1H, H factor 2 (complement), age-related maculopathy susceptibility 1
Location: 1q31.3: 196651754 - 196752476 (+)
Gene type: protein_coding, 39 transcripts.
Scores: LoFtool: 0.358000 | pLI: 0.99963097 | LOEUF: 0.324
Normal function
The gene encodes the complement factor H (CFH), originally known as beta-1H globulin, which is a serum glycoprotein that regulates the function of the alternative complement pathway in fluid phase and on cellular surfaces. Together with other proteins, CFH protects healthy cells by preventing the complement system to be activated when is no needed.
Dysfunction and disease
Mono- or biallelic mutations in CFH have been associated with autosomal dominant or autosomal recessive complement factor H deficiency (MIM:609814) or susceptibility to atypical hemolytic uremic syndrome (OMIM:2235400), but also with age-related macular degeneration [MIM:610698], or basal laminar drusen [MIM:126700]. [Load More]
[Reviewed by Andrés Caballero-Oteyza on 2020-07-09 12:13:57]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
aHUS1 |
Hemolytic uremic syndrome, atypical, 1 | AD/AR |
235400 |
0 (0 fams) | |
| CFHD |
Complement factor H deficiency | AD/AR |
609814 |
0 (0 fams) | |
| BLD |
Basal laminar drusen | AD |
126700 |
0 (0 fams) |
Please mind that full curation (inclusion of all published patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of CFH
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 202 | ENST00000367429.9 | 1 | CCDS1385 | Select | protein_coding | 22 | Yes | 3962 | NM_000186 |
| 206 | ENST00000630130.2 | CCDS53452 | protein_coding | 10 | No | 1658 | NM_001014975 |
Published variants
Found 2 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|---|---|---|---|---|---|---|
| Q950H |
EX18 | 2925 | c.2850G>T | p.Gln950His | missense_variant | Likely Benign | 0 |
| T956M |
EX18 | 2942 | c.2867C>T | p.Thr956Met | missense_variant | Likely Benign | 0 |
Please mind that full curation (inclusion of all published variants) of this gene has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | NM_000186.3: EX10 (90-98%); NM_000186.3: EX20-22 (90-98%); NM_000186.3: EX8-9 (90-98%) |
| 2013 | Uniparental disomy | 23870792 | Authors reported a 8-mo-old infant with aHUS carrying a homozygous CFH mutation (c.2880delT, p.Phe960fs) inherited via paternal uniparental isodisomy of chromosome 1. |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in CFH
| ID | Year | Title | Journal | PMID | Variants |
|---|---|---|---|---|---|
| 232 |
2003 | Complement factor H mutations and gene polymorphisms in haem... | Hum. Mol. Genet. | 14583443 |
1 |
| 233 |
2010 | Mutations in alternative pathway complement proteins in Amer... | Hum. Mut. | 20513133 |
1 |
| 234 |
2012 | A Novel C3 Mutation Causing Increased Formation of the C3 Co... | jimmunol | 22250080 |
1 |
| 235 |
2015 | Functional characterization of two novel non-synonymous alte... | Mol. Immunol. | 25733390 |
1 |
| 415 |
2001 | Clustering of missense mutations in the C-terminal region of... | Am. J. Hum. Genet. | 11170895 |
1 |
| 416 |
2011 | Proliferative glomerulonephritis secondary to dysfunction of... | CJASN | 21415311 |
1 |
| 417 |
2012 | Causes of alternative pathway dysregulation in dense deposit... | CJASN | 22223606 |
1 |
| 418 |
2012 | Eculizumab for dense deposit disease and C3 glomerulonephrit... | CJASN | 22403278 |
1 |
| 419 |
2013 | Maternal coding variants in complement receptor 1 and sponta... | Hum. Gen. | 23591632 |
1 |
| 420 |
2015 | Analysis of rare variants in the CFH gene in patients with t... | Mol. Vision | 25814826 |
1 |
| 421 |
2017 | Serological and genetic complement alterations in infection-... | Ped. Nephrol. | 27718086 |
1 |
| 422 |
2018 | Genetic testing of complement and coagulation pathways in pa... | Mod. Pathol. | 29148534 |
1 |
| 423 |
2018 | Diseases of complement dysregulation—an overview... | Sem. Immunopathol. | 29327071 |
1 |