Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Multiplex Ligation-Dependent Probe Amplification |
| Turnaround | 20 days | |
| Specimen type | genomic DNA |
IgA nephropathy
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CFHR1
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CFHR3
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CFHR5
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IgA nephropathy type 1
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IgA nephropathy type 2
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IgA nephropathy type 3
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SPRY2
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| 1. |
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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