Complement factor H-related 1
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. The polymorphism of deletion of this gene and the neighboring CFHR3 gene is associated with lupus erythematodes and IgA nephropathy.
Genetests:
Related Diseases:
References:
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Nürnberger J et al. (2009) Eculizumab for atypical hemolytic-uremic syndrome.
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Hughes AE et al. (2006) A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration.
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3. |
Skerka C et al. (1993) A novel short consensus repeat-containing molecule is related to human complement factor H.
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4. |
NCBI article
NCBI 3078
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5. |
OMIM.ORG article
Omim 134371
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6. |
Orphanet article
Orphanet ID 286578
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7. |
Wikipedia article
Wikipedia EN (CFHR1)
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Update: Aug. 14, 2020