| CFHR5 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | CFHR5 , CFHL5, CFHR5D, FHR-5, FHR5, complement factor H related 5 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 608593 HomoloGene: 57124 GeneCards: CFHR5 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Complement factor H-related protein 5 is a protein that in humans is encoded by the CFHR5 gene. [3] [4] [5]
CFHR5 is structurally related to complement factor H which plays an important role in the regulation of a branch of the innate immune system called the alternative complement pathway. Like complement factor H, CFHR5 is able to bind to complement C3. [6]
A mutation in CHFR5 was found in patients with the disease CFHR5 nephropathy, which is a common cause of renal disease in Cyprus. The mutated form of the protein found in patients with this disease has impaired ability to bind to complement C3, suggesting that CFHR5 is important in protecting the kidneys from attack by the complement system. [7]
The complement system, also known as complement cascade, is a part of the immune system that enhances (complements) the ability of antibodies and phagocytic cells to clear microbes and damaged cells from an organism, promote inflammation, and attack the pathogen's cell membrane. It is part of the innate immune system, which is not adaptable and does not change during an individual's lifetime. The complement system can, however, be recruited and brought into action by antibodies generated by the adaptive immune system.
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.
Complement receptor type 1 (CR1) also known as C3b/C4b receptor or CD35 is a protein that in humans is encoded by the CR1 gene.
Complement component 3, often simply called C3, is a protein of the immune system that is found primarily in the blood. It plays a central role in the complement system of vertebrate animals and contributes to innate immunity. In humans it is encoded on chromosome 19 by a gene called C3.
Complement C2 is a protein that in humans is encoded by the C2 gene. The protein encoded by this gene is part of the classical pathway of the complement system, acting as a multi-domain serine protease. Deficiency of C2 has been associated with certain autoimmune diseases.
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.
Membranoproliferative glomerulonephritis (MPGN) is a type of glomerulonephritis caused by deposits in the kidney glomerular mesangium and basement membrane (GBM) thickening, activating the complement system and damaging the glomeruli.
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.
CD59 glycoprotein, also known as MAC-inhibitory protein (MAC-IP), membrane inhibitor of reactive lysis (MIRL), or protectin, is a protein that in humans is encoded by the CD59 gene. It is an LU domain and belongs to the LY6/uPAR/alpha-neurotoxin protein family.
Barraquer–Simons syndrome is a rare form of lipodystrophy, which usually first affects the head, and then spreads to the thorax. It is named for Luis Barraquer Roviralta (1855–1928), a Spanish physician, and Arthur Simons (1879–1942), a German physician. Some evidence links it to LMNB2.
Complement C1q subcomponent subunit A is a protein that in humans is encoded by the C1QA gene.
Chemokine-binding protein 2 is a protein that in humans is encoded by the CCBP2 gene.
Alpha-taxilin also known as interleukin-14 (IL-14) or high molecular weight B-cell growth factor (HMW-BCGF) is a protein that in humans is encoded by the TXLNA gene.
Complement factor H-related protein 1 is a protein that in humans is encoded by the CFHR1 gene.
Interleukin 17 receptor A, also known as IL17RA and CDw217, is a human gene.
Complement factor H-related protein 3 is a protein that in humans is encoded by the CFHR3 gene.
Complement factor H-related protein 2 is a protein that in humans is encoded by the CFHR2 gene.
In molecular biology SprD is a non-coding RNA expressed on pathogenicity islands in Staphylococcus aureus. It was identified in silico along with a number of other sRNAs (SprA-G) through microarray analysis which were confirmed using a Northern blot. SprD has been found to significantly contribute to causing disease in an animal model.
Complement factor H-related protein 5 (CFHR5) nephropathy is a form of inherited kidney disease which is endemic in Cyprus and is caused by a mutation in the gene CFHR5. It is thought to affect up to 1:6000 Cypriots but has not been reported in anybody who is not of Cypriot descent.
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