Complement factor H-related 5
This is one of 5 complement factor H-related genes that occur in tandem with CFH. All these genes though less transcribed share some structural domains and functional properties with complement factor H. Some mutations and polymorphisms have been associated with atypical HUS and age-related macula degeneration. CFHR5 deficiency results in a nephropathy.
Genetests:
Related Diseases:
References:
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Nürnberger J et al. (2009) Eculizumab for atypical hemolytic-uremic syndrome.
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2. |
Abrera-Abeleda MA et al. (2006) Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease).
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3. |
McRae JL et al. (2001) Human factor H-related protein 5 (FHR-5). A new complement-associated protein.
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4. |
NCBI article
NCBI 81494
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5. |
OMIM.ORG article
Omim 608593
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6. |
Orphanet article
Orphanet ID 286604
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7. |
Wikipedia article
Wikipedia EN (CFHR5)
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Update: Aug. 14, 2020