CFD (complement factor D)
Complement Factor D (CFD) is a serine protease integral to the complement system, predominantly expressed in adipose tissue and the liver, where it plays a pivotal role in the activation of the alternative complement pathway. By cleaving Complement Factor B (CFB) to generate the Bb fragment, CFD facilitates the assembly of the C3 convertase complex (C3bBb), thereby initiating the complement cascade that is essential for pathogen clearance and the regulation of inflammatory responses. As a member of the serine protease family, which utilizes a conserved catalytic mechanism involving an active-site serine residue to hydrolyze peptide bonds, CFD contributes to diverse physiological processes including coagulation, immunity, and digestion. While CFD is critical for immune defense, its dysregulation has significant clinical implications; mutations can lead to complement dysfunction, linking the gene to autoimmune conditions such as atypical hemolytic uremic syndrome and metabolic disorders like obesity and type 2 diabetes. Emerging evidence suggests that elevated CFD levels are associated with insulin resistance and adipose tissue inflammation, whereas reduced expression may improve metabolic function. Consequently, the overexpression of CFD can exacerbate inflammatory reactions and tissue damage, highlighting the potential therapeutic value of inhibiting its activity in the management of complement-mediated diseases.
Gene Ontology
Subcellular localization of CFD (and its protein):
- plasma membrane
- cytoplasm
- extracellular
- golgi
- vesicle
- cytoskeleton
- endoplasmic reticulum
- nucleus
- endosome
- lysosome
- mitochondrion
Gene Ontology (GO) terms for CFD:
| Interacting Gene | Interaction | Source/Score |
| Name |
|---|
| 4610 Complement and coagulation cascades [PATH:hsa04610] |
| 5150 Staphylococcus aureus infection [PATH:hsa05150] |
| Name |
|---|
| Alternative complement activation |
| Complement cascade |
| Hemostasis |
| Immune System |
| Initial triggering of complement |
| Innate Immune System |
| Platelet activation, signaling and aggregation |
| Platelet degranulation |
| Response to elevated platelet cytosolic Ca2+ |
| Disease | Score | NofPmids | NofSnps | Source |
| Complement Factor D Deficiency | 0.240271442 | 1 | 0 | BeFree_ORPHANET_UNIPROT |
| Meningococcal Infections | 0.120271442 | 1 | 0 | BeFree_CTD_human |
| Glomerulonephritis | 0.12 | 1 | 0 | CTD_human |
| Neisseriaceae Infections | 0.12 | 1 | 0 | CTD_human |
| Endometriosis | 0.12 | 1 | 0 | CTD_human |
| Immunologic Deficiency Syndromes | 0.12 | 2 | 0 | CTD_human |
| Ovarian Cysts | 0.12 | 1 | 0 | CTD_human |
| Obesity | 0.080271442 | 2 | 0 | BeFree_RGD |
| Arthus Reaction | 0.08 | 1 | 0 | RGD |
| Diabetes Mellitus, Experimental | 0.08 | 1 | 0 | RGD |
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