Complement factor H-related 4
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. No mutations have been identified in the CFHR4 gene yet.
Genetests:
Related Diseases:
References:
1. |
Nürnberger J et al. (2009) Eculizumab for atypical hemolytic-uremic syndrome.
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2. |
McRae JL et al. (2002) Location and structure of the human FHR-5 gene.
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3. |
Orphanet article
Orphanet ID 474489
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4. |
NCBI article
NCBI 10877
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5. |
OMIM.ORG article
Omim 605337
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6. |
Wikipedia article
Wikipedia EN (CFHR4)
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Update: Aug. 14, 2020