This gene encodes a serine proteinase that is essential for regulating the complement cascade. The encoded preproprotein is cleaved to produce both heavy and light chains, which are linked by disulfide bonds to form a heterodimeric glycoprotein. This heterodimer can cleave and inactivate the complement components C4b and C3b, and it prevents the assembly of the C3 and C5 conver... See more...

Aliases for CFI Gene

Aliases for CFI Gene

  • Complement Factor I 2 3 4 5
  • Konglutinogen-Activating Factor 2 3
  • C3B/C4B Inactivator 3 4
  • C3b-Inactivator 2 3
  • C3b-INA 2 3
  • KAF 2 3
  • FI 2 3
  • IF 3 4
  • Complement Control Protein Factor I 3
  • Complement Factor I Heavy Chain 3
  • Light Chain Of Factor I 3
  • Complement Component I 3
  • I Factor (Complement) 2
  • EC 3.4.21.45 4
  • EC 3.4.21 50
  • ARMD13 3
  • C3BINA 3
  • AHUS3 3
  • CFI 5

External Ids for CFI Gene

Previous HGNC Symbols for CFI Gene

  • IF

Previous GeneCards Identifiers for CFI Gene

  • GC04M110881
  • GC04M110661
  • GC04M106394
  • GC04M109740

Summaries for CFI Gene

Entrez Gene Summary for CFI Gene

  • This gene encodes a serine proteinase that is essential for regulating the complement cascade. The encoded preproprotein is cleaved to produce both heavy and light chains, which are linked by disulfide bonds to form a heterodimeric glycoprotein. This heterodimer can cleave and inactivate the complement components C4b and C3b, and it prevents the assembly of the C3 and C5 convertase enzymes. Defects in this gene cause complement factor I deficiency, an autosomal recessive disease associated with a susceptibility to pyogenic infections. Mutations in this gene have been associated with a predisposition to atypical hemolytic uremic syndrome, a disease characterized by acute renal failure, microangiopathic hemolytic anemia and thrombocytopenia. Primary glomerulonephritis with immune deposits and age-related macular degeneration are other conditions associated with mutations of this gene. [provided by RefSeq, Dec 2015]

GeneCards Summary for CFI Gene

CFI (Complement Factor I) is a Protein Coding gene. Diseases associated with CFI include Complement Factor I Deficiency and Hemolytic Uremic Syndrome, Atypical 3. Among its related pathways are Complement and coagulation cascades and Immune response Lectin induced complement pathway. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity and scavenger receptor activity. An important paralog of this gene is ENSG00000285330.

UniProtKB/Swiss-Prot Summary for CFI Gene

  • Trypsin-like serine protease that plays an essential role in regulating the immune response by controlling all complement pathways. Inhibits these pathways by cleaving three peptide bonds in the alpha-chain of C3b and two bonds in the alpha-chain of C4b thereby inactivating these proteins (PubMed:7360115, PubMed:17320177). Essential cofactors for these reactions include factor H and C4BP in the fluid phase and membrane cofactor protein/CD46 and CR1 on cell surfaces (PubMed:2141838, PubMed:9605165, PubMed:12055245). The presence of these cofactors on healthy cells allows degradation of deposited C3b by CFI in order to prevent undesired complement activation, while in apoptotic cells or microbes, the absence of such cofactors leads to C3b-mediated complement activation and subsequent opsonization (PubMed:28671664).

Gene Wiki entry for CFI Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CFI Gene

Genomics for CFI Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CFI Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CFI on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CFI

Top Transcription factor binding sites by QIAGEN in the CFI gene promoter:
  • ATF-2
  • CREB
  • deltaCREB
  • p53
  • STAT3

Genomic Locations for CFI Gene

Latest Assembly
chr4:109,730,982-109,802,040
(GRCh38/hg38)
Size:
71,059 bases
Orientation:
Minus strand

Previous Assembly
chr4:110,652,138-110,723,155
(GRCh37/hg19 by Entrez Gene)
Size:
71,018 bases
Orientation:
Minus strand

chr4:110,661,852-110,723,335
(GRCh37/hg19 by Ensembl)
Size:
61,484 bases
Orientation:
Minus strand

Genomic View for CFI Gene

Genes around CFI on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CFI Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CFI Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CFI Gene

Proteins for CFI Gene

  • Protein details for CFI Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P05156-CFAI_HUMAN
    Recommended name:
    Complement factor I
    Protein Accession:
    P05156
    Secondary Accessions:
    • O60442

    Protein attributes for CFI Gene

    Size:
    583 amino acids
    Molecular mass:
    65750 Da
    Quaternary structure:
    • Heterodimer of a light and heavy chains; disulfide-linked. The fully processed and mature protein circulates as a zymogen, and is allosterically activated by substrate-induced remodeling of the active site (PubMed:21768352). Interacts with C3b (PubMed:9291131, PubMed:28671664). Interacts with complement factor H (PubMed:9291131, PubMed:28671664).
    • (Microbial infection) Interacts with Staphylococcus aureus clumping factor A/ClfA; this interaction enhances cleavage of C3b into iC3b by CFI.
    SequenceCaution:
    • Sequence=CAA68416.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CFI Gene

neXtProt entry for CFI Gene

Selected DME Specific Peptides for CFI Gene

P05156:
  • GDSGGPL
  • SGGPLVC
  • PGVYTKV
  • CKGDSGG
  • WILTAAHC

Post-translational modifications for CFI Gene

  • Glycosylation at Asn70, Asn103, Asn177, Asn464, Asn494, and Asn536
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • CFAI_HUMAN (742)

Antibodies for research

Domains & Families for CFI Gene

Gene Families for CFI Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted secreted proteins

Protein Domains for CFI Gene

InterPro:
Blocks:
  • Serine protease, trypsin family
  • Chymotrypsin serine protease family (S1) signature
  • Low density lipoprotein-receptor, class A
  • Speract/scavenger receptor
  • Factor I membrane attack complex
  • Protease inhibitor, Kazal-type

Suggested Antigen Peptide Sequences for CFI Gene

GenScript: Design optimal peptide antigens:
  • C3B/C4B inactivator (CFAI_HUMAN)
  • CFI protein (Q8WW88_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P05156

UniProtKB/Swiss-Prot:

CFAI_HUMAN :
  • Belongs to the peptidase S1 family.
Family:
  • Belongs to the peptidase S1 family.
genes like me logo Genes that share domains with CFI: view

Function for CFI Gene

Molecular function for CFI Gene

UniProtKB/Swiss-Prot Function:
Trypsin-like serine protease that plays an essential role in regulating the immune response by controlling all complement pathways. Inhibits these pathways by cleaving three peptide bonds in the alpha-chain of C3b and two bonds in the alpha-chain of C4b thereby inactivating these proteins (PubMed:7360115, PubMed:17320177). Essential cofactors for these reactions include factor H and C4BP in the fluid phase and membrane cofactor protein/CD46 and CR1 on cell surfaces (PubMed:2141838, PubMed:9605165, PubMed:12055245). The presence of these cofactors on healthy cells allows degradation of deposited C3b by CFI in order to prevent undesired complement activation, while in apoptotic cells or microbes, the absence of such cofactors leads to C3b-mediated complement activation and subsequent opsonization (PubMed:28671664).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Inactivates complement subcomponents C3b, iC3b and C4b by proteolytic cleavage.; EC=3.4.21.45;.

Enzyme Numbers (IUBMB) for CFI Gene

Phenotypes From GWAS Catalog for CFI Gene

Gene Ontology (GO) - Molecular Function for CFI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IEA --
GO:0005044 scavenger receptor activity IEA --
GO:0005515 protein binding IEA,IPI 16237761
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity IEA --
genes like me logo Genes that share ontologies with CFI: view
genes like me logo Genes that share phenotypes with CFI: view

Human Phenotype Ontology for CFI Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CFI Gene

MGI Knock Outs for CFI:
  • Cfi Cfi<tm1Mcp>
  • Cfi Cfi<tm1b(EUCOMM)Hmgu>

miRNA for CFI Gene

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CFI

No data available for Transcription Factor Targets and HOMER Transcription for CFI Gene

Localization for CFI Gene

Subcellular locations from UniProtKB/Swiss-Prot for CFI Gene

Secreted, extracellular space. Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CFI gene
Compartment Confidence
extracellular 5
plasma membrane 2
nucleus 2
cytosol 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for CFI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA,HDA 16502470
GO:0016020 membrane IEA --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with CFI: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CFI Gene

Pathways & Interactions for CFI Gene

PathCards logo

SuperPathways for CFI Gene

SuperPathway Contained pathways
1 Immune response Lectin induced complement pathway
.56
.56
.55
2 Complement and coagulation cascades
3 Innate Immune System
4 Staphylococcus aureus infection
5 Creation of C4 and C2 activators
genes like me logo Genes that share pathways with CFI: view

Pathways by source for CFI Gene

3 GeneGo (Thomson Reuters) pathways for CFI Gene
  • Immune response Alternative complement pathway
  • Immune response Classical complement pathway
  • Immune response Lectin induced complement pathway

SIGNOR curated interactions for CFI Gene

Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for CFI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process IEA --
GO:0006508 proteolysis IEA --
GO:0006897 endocytosis IEA --
GO:0006958 complement activation, classical pathway IEA --
GO:0016032 viral process IEA --
genes like me logo Genes that share ontologies with CFI: view

Drugs & Compounds for CFI Gene

(20) Drugs for CFI Gene - From: DrugBank, ClinicalTrials, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved, Investigational Pharma Target 1706
Copper Approved, Investigational Pharma Target 276
zinc acetate Approved, Investigational Pharma Target 0
Lenograstim Approved, Investigational Pharma 1379
Adjuvants, Immunologic Pharma 2330

(9) Additional Compounds for CFI Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CFI: view

Transcripts for CFI Gene

mRNA/cDNA for CFI Gene

10 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CFI

Alternative Splicing Database (ASD) splice patterns (SP) for CFI Gene

No ASD Table

Relevant External Links for CFI Gene

GeneLoc Exon Structure for
CFI

Expression for CFI Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CFI Gene

mRNA differential expression in normal tissues according to GTEx for CFI Gene

This gene is overexpressed in Liver (x20.5) and Kidney - Cortex (x4.5).

Protein differential expression in normal tissues from HIPED for CFI Gene

This gene is overexpressed in Serum (23.9), Plasma (12.4), Synovial fluid (10.0), and Vitreous humor (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CFI Gene



Protein tissue co-expression partners for CFI Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CFI

SOURCE GeneReport for Unigene cluster for CFI Gene:

Hs.312485

mRNA Expression by UniProt/SwissProt for CFI Gene:

P05156-CFAI_HUMAN
Tissue specificity: Expressed in the liver by hepatocytes (PubMed:6327681). Also present in other cells such as monocytes, fibroblasts or keratinocytes (PubMed:6444659, PubMed:17320177).

Evidence on tissue expression from TISSUES for CFI Gene

  • Nervous system(4.9)
  • Liver(4.8)
  • Bone marrow(4.2)
  • Kidney(3.9)
  • Blood(2.6)
  • Spleen(2.2)
  • Eye(2.2)
  • Heart(2.2)
  • Lung(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CFI Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
  • larynx
  • meninges
  • middle ear
  • neck
  • sinus
  • skull
Thorax:
  • heart
  • lung
Abdomen:
  • kidney
  • liver
  • pancreas
Pelvis:
  • ureter
  • urethra
  • urinary bladder
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nervous system
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with CFI: view

Primer products for research

Orthologs for CFI Gene

This gene was present in the common ancestor of animals.

Orthologs for CFI Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CFI 29 30
  • 98.91 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CFI 29 30
  • 81.35 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CFI 29 30
  • 80.5 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cfi 29
  • 77.21 (n)
Mouse
(Mus musculus)
Mammalia Cfi 29 16 30
  • 76.86 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CFI 30
  • 53 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CFI 30
  • 49 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CFI 29 30
  • 62.63 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 49 (a)
OneToMany
-- 30
  • 47 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cfi 29
  • 60.05 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.1143 29
Zebrafish
(Danio rerio)
Actinopterygii cfi 29
  • 52.73 (n)
CFI 30
  • 34 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Corin 30
  • 9 (a)
ManyToMany
CG1632 30
  • 8 (a)
ManyToMany
ndl 30
  • 4 (a)
ManyToMany
Species where no ortholog for CFI was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CFI Gene

ENSEMBL:
Gene Tree for CFI (if available)
TreeFam:
Gene Tree for CFI (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CFI: view image
Alliance of Genome Resources:
Additional Orthologs for CFI

Paralogs for CFI Gene

(32) SIMAP similar genes for CFI Gene using alignment to 5 proteins:

  • CFAI_HUMAN
  • D6R9Z8_HUMAN
  • E7ETH0_HUMAN
  • G3XAM2_HUMAN
  • Q8WW88_HUMAN
genes like me logo Genes that share paralogs with CFI: view

Variants for CFI Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CFI Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
1006658 Uncertain Significance: not provided 109,742,492(-) T/C
NM_000204.5(CFI):c.1533A>G (p.Ala511=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
1008106 Uncertain Significance: not provided 109,749,527(-) C/A
NM_000204.5(CFI):c.1016G>T (p.Arg339Leu)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1028129 Uncertain Significance: Afibrinogenemia 109,749,281(-) C/G
NM_000204.5(CFI):c.1085G>C (p.Gly362Ala)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1028610 Uncertain Significance: Atypical hemolytic-uremic syndrome 3 109,766,655(-) G/C
NM_000204.5(CFI):c.227C>G (p.Ala76Gly)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON
1032925 Pathogenic: Afibrinogenemia 109,742,567(-) C/T
NM_000204.5(CFI):c.1458G>A (p.Trp486Ter)
NONSENSE,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CFI Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CFI Gene

Variant ID Type Subtype PubMed ID
esv1651639 CNV deletion 17803354
esv26742 CNV gain 19812545
esv3569652 CNV loss 25503493
nsv1073365 CNV deletion 25765185
nsv1117115 CNV deletion 24896259
nsv1136900 CNV deletion 24896259
nsv4463 CNV deletion 18451855
nsv956423 CNV deletion 24416366
nsv966307 CNV duplication 23825009

Variation tolerance for CFI Gene

Residual Variation Intolerance Score: 82.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.22; 39.95% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CFI Gene

Human Gene Mutation Database (HGMD)
CFI
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CFI
Leiden Open Variation Database (LOVD)
CFI

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CFI Gene

Disorders for CFI Gene

MalaCards: The human disease database

(36) MalaCards diseases for CFI Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
complement factor i deficiency
  • cfid
hemolytic uremic syndrome, atypical 3
  • hemolytic uremic syndrome, atypical, susceptibility to, 3
macular degeneration, age-related, 13
  • armd13
afibrinogenemia, congenital
  • hypofibrinogenemia, congenital
familial drusen
  • dhrd
- elite association - COSMIC cancer census association via MalaCards
Search CFI in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CFAI_HUMAN
  • Hemolytic uremic syndrome atypical 3 (AHUS3) [MIM:612923]: An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease. {ECO:0000269 PubMed:15173250, ECO:0000269 PubMed:16621965, ECO:0000269 PubMed:17106690, ECO:0000269 PubMed:20513133}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry. Other genes may play a role in modifying the phenotype.
  • Complement factor I deficiency (CFI deficiency) [MIM:610984]: Autosomal recessive condition associated with a propensity to pyogenic infections. {ECO:0000269 PubMed:12562389, ECO:0000269 PubMed:17018561, ECO:0000269 PubMed:8613545}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Macular degeneration, age-related, 13 (ARMD13) [MIM:615439]: A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. {ECO:0000269 PubMed:23685748}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

Additional Disease Information for CFI

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CFI: view

No data available for Genatlas for CFI Gene

Publications for CFI Gene

  1. Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. (PMID: 20513133) Maga TK … Smith RJ (Human mutation 2010) 3 4 22 40
  2. Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome. (PMID: 16621965) Caprioli J … International Registry of Recurrent and Familial HUS/TTP (Blood 2006) 3 4 22 40
  3. Staphylococcus aureus clumping factor A binds to complement regulator factor I and increases factor I cleavage of C3b. (PMID: 18544012) Hair PS … Cunnion KM (The Journal of infectious diseases 2008) 3 4 22
  4. Factor H, membrane cofactor protein, and factor I mutations in patients with hemolysis, elevated liver enzymes, and low platelet count syndrome. (PMID: 18658028) Fakhouri F … Frémeaux-Bacchi V (Blood 2008) 3 22 72
  5. Molecular basis of complement factor I (CFI) polymorphism: one of two polymorphic suballeles responsible for CFI A is Japanese-specific. (PMID: 18825487) Yuasa I … Henke J (Journal of human genetics 2008) 3 22 40

Products for CFI Gene

Sources for CFI Gene