CFHR5 Gene

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/cfhr5

complement factor H related 5

genes

1. Normal Function

The CFHR5 gene provides instructions for making a protein called complement factor H-related 5. The precise function of this protein is unknown. However, its structure is similar to that of a protein called complement factor H (which is produced from the CFH gene). This similarity provides clues to the probable function of complement factor H-related 5.

Complement factor H regulates a part of the body's immune response known as the complement system. The complement system is a group of proteins that work together to destroy foreign invaders (such as bacteria and viruses), trigger inflammation, and remove debris from cells and tissues. This system must be carefully regulated so it targets only unwanted materials and does not damage the body's healthy cells. Complement factor H helps to protect healthy cells by preventing the complement system from being turned on (activated) when it is not needed. Studies suggest that complement factor H-related 5 also plays a role in controlling the complement system.

2. Health Conditions Related to Genetic Changes

2.1. Atypical Hemolytic-uremic Syndrome

Atypical hemolytic-uremic syndrome

2.2. C3 Glomerulopathy

Several mutations in the CFHR5 gene have been found to cause a rare form of kidney disease called C3 glomerulopathy. This disorder damages the kidneys and can lead to end-stage renal disease (ESRD), a life-threatening condition that prevents the kidneys from filtering fluids and waste products from the body effectively.

The most common CFHR5 gene mutation has been identified in people from the Mediterranean island of Cyprus. This genetic change abnormally copies (duplicates) regions of the CFHR5 gene known as exons 2 and 3. The duplication alters the structure and function of complement factor H-related 5, preventing it from regulating the complement system effectively. As a result, the complement system becomes overactive, which damages structures called glomeruli in the kidneys. These structures are clusters of tiny blood vessels that help filter waste products from the blood. Damage to glomeruli prevents the kidneys from filtering waste products normally and can lead to ESRD.

Several other changes involving the CFHR5 gene do not cause C3 glomerulopathy directly but appear to increase the likelihood of developing the disorder. It is unclear how variations in this gene affect the regulation of the complement system, and researchers are still working to determine how these genetic changes contribute to disease risk.

2.3. Age-Related Macular Degeneration

Age-related macular degeneration

3. Other Names for This Gene

CFHL5
complement factor H-related 5
complement factor H-related protein 5
factor H-related protein 5
FHR-5
FHR5
FHR5_HUMAN
FLJ10549
MGC133240

References

Abrera-Abeleda MA, Nishimura C, Smith JL, Sethi S, McRae JL, Murphy BF,Silvestri G, Skerka C, Józsi M, Zipfel PF, Hageman GS, Smith RJ. Variations inthe complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) areassociated with membranoproliferative glomerulonephritis type II (dense depositdisease). J Med Genet. 2006 Jul;43(7):582-9.
Athanasiou Y, Voskarides K, Gale DP, Damianou L, Patsias C, Zavros M, Maxwell PH, Cook HT, Demosthenous P, Hadjisavvas A, Kyriacou K, Zouvani I, Pierides A,Deltas C. Familial C3 glomerulopathy associated with CFHR5 mutations: clinicalcharacteristics of 91 patients in 16 pedigrees. Clin J Am Soc Nephrol. 2011Jun;6(6):1436-46. doi: 10.2215/CJN.09541010.
Deltas C, Gale D, Cook T, Voskarides K, Athanasiou Y, Pierides A. C3glomerulonephritis/CFHR5 nephropathy is an endemic disease in Cyprus: clinicaland molecular findings in 21 families. Adv Exp Med Biol. 2013;735:189-96. Review.
Gale DP, de Jorge EG, Cook HT, Martinez-Barricarte R, Hadjisavvas A, McLeanAG, Pusey CD, Pierides A, Kyriacou K, Athanasiou Y, Voskarides K, Deltas C,Palmer A, Frémeaux-Bacchi V, de Cordoba SR, Maxwell PH, Pickering MC.Identification of a mutation in complement factor H-related protein 5 in patientsof Cypriot origin with glomerulonephritis. Lancet. 2010 Sep 4;376(9743):794-801. doi: 10.1016/S0140-6736(10)60670-8.
Gale DP, Maxwell PH. C3 glomerulonephritis and CFHR5 nephropathy. Nephrol DialTransplant. 2013 Feb;28(2):282-8. doi: 10.1093/ndt/gfs441.Review.
Gale DP, Pickering MC. Regulating complement in the kidney: insights fromCFHR5 nephropathy. Dis Model Mech. 2011 Nov;4(6):721-6. doi: 10.1242/dmm.008052. Review.
Xiao X, Pickering MC, Smith RJ. C3 glomerulopathy: the genetic and clinicalfindings in dense deposit disease and C3 glomerulonephritis. Semin Thromb Hemost.2014 Jun;40(4):465-71. doi: 10.1055/s-0034-1376334.
Zipfel PF, Skerka C, Chen Q, Wiech T, Goodship T, Johnson S, Fremeaux-BacchiV, Nester C, de Córdoba SR, Noris M, Pickering M, Smith R. The role of complementin C3 glomerulopathy. Mol Immunol. 2015 Sep;67(1):21-30. doi:10.1016/j.molimm.2015.03.012.

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Subjects: Genetics & Heredity

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Vicky Zhou

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Entry Collection: MedlinePlus

Update Date: 24 Dec 2020

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