| CFHR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | CFHR1 , CFHL, CFHL1, CFHL1P, CFHR1P, FHR1, H36-1, H36-2, HFL1, HFL2, complement factor H related 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 134371 MGI: 2138169 HomoloGene: 55632 GeneCards: CFHR1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Complement factor H-related protein 1 is a protein that in humans is encoded by the CFHR1 gene. [5] [6] [7]
Hemolytic–uremic syndrome (HUS) is a group of blood disorders characterized by low red blood cells, acute kidney injury, and low platelets. Initial symptoms typically include bloody diarrhea, fever, vomiting, and weakness. Kidney problems and low platelets then occur as the diarrhea progresses. Children are more commonly affected, but most children recover without permanent damage to their health, although some children may have serious and sometimes life-threatening complications. Adults, especially the elderly, may present a more complicated presentation. Complications may include neurological problems and heart failure.
The alternative pathway is a type of cascade reaction of the complement system and is a component of the innate immune system, a natural defense against infections.
Thrombomodulin (TM), CD141 or BDCA-3 is an integral membrane protein expressed on the surface of endothelial cells and serves as a cofactor for thrombin. It reduces blood coagulation by converting thrombin to an anticoagulant enzyme from a procoagulant enzyme. Thrombomodulin is also expressed on human mesothelial cell, monocyte and a dendritic cell subset.
Complement component 5 is a protein that in humans is encoded by the C5 gene.
Complement factor B is a protein that in humans is encoded by the CFB gene.
Complement receptor type 2 (CR2), also known as complement C3d receptor, Epstein-Barr virus receptor, and CD21, is a protein that in humans is encoded by the CR2 gene.
Complement control protein are proteins that interact with components of the complement system.
Factor H (FH) is a member of the regulators of complement activation family and is a complement control protein. It is a large, soluble glycoprotein that circulates in human plasma. Its principal function is to regulate the alternative pathway of the complement system, ensuring that the complement system is directed towards pathogens or other dangerous material and does not damage host tissue. Factor H regulates complement activation on self cells and surfaces by possessing both cofactor activity for the Factor I mediated C3b cleavage, and decay accelerating activity against the alternative pathway C3-convertase, C3bBb. Factor H exerts its protective action on self cells and self surfaces but not on the surfaces of bacteria or viruses. There are however, important exceptions, such as for example the bacterial pathogen, Neisseria meningitidis. This human pathogen has evolved mechanisms to recruit human FH and down-regulate the alternative pathway. Binding of FH permits the bacteria to proliferate in the bloodstream and cause disease.
CD46 complement regulatory protein also known as CD46 and Membrane Cofactor Protein is a protein which in humans is encoded by the CD46 gene. CD46 is an inhibitory complement receptor.
Complement factor I, also known as C3b/C4b inactivator, is a protein that in humans is encoded by the CFI gene. Complement factor I is a protein of the complement system, first isolated in 1966 in guinea pig serum, that regulates complement activation by cleaving cell-bound or fluid phase C3b and C4b. It is a soluble glycoprotein that circulates in human blood at an average concentration of 35 μg/mL.
Complement C1q subcomponent subunit A is a protein that in humans is encoded by the C1QA gene.
C-C motif chemokine 4-like is a protein that in humans is encoded by the CCL4L1 gene.
Interleukin-18-binding protein is a protein that in humans is encoded by the IL18BP gene.
Transcription factor 7 is the gene that in humans encodes for the TCF1 protein.
Complement factor H-related protein 3 is a protein that in humans is encoded by the CFHR3 gene.
Complement factor H-related protein 5 is a protein that in humans is encoded by the CFHR5 gene.
Complement factor H-related protein 2 is a protein that in humans is encoded by the CFHR2 gene.
Complement factor H-related protein 4 is a protein that in humans is encoded by the CFHR4 gene.
Early growth response protein 4 (EGR-4), also known as AT133, is a protein that in humans is encoded by the EGR4 gene.
Atypical hemolytic uremic syndrome (aHUS), also known as complement-mediated hemolytic uremic syndrome, is an extremely rare, life-threatening, progressive disease that frequently has a genetic component. In most cases it can be effectively controlled by interruption of the complement cascade. Particular monoclonal antibodies, discussed later in the article, have proven efficacy in many cases.
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