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CFHR5
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Complement factor H-related 5

Scientific background:

Summary: 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.

Methodology:

 

research
test
Method Genomic sequencing of the entire coding region
Turn-around time 25 working days
Effort 25 working days
Specimen DNA
Quality assessment Internal quality control only
  All known and new missense, nonsense and splice mutations can be detected.

Systematic link table: 

Mesangioproliferative glomerulonephritis
CFHR5
Membranoproliferative glomerulonephritis
C1QB
CFH
CFHR5
MTHFR
PLA2R1

Literature: 

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).
McRae JL et al. (2001) Human factor H-related protein 5 (FHR-5). A new complement-associated protein.
Nürnberger J et al. (2009) Eculizumab for atypical hemolytic-uremic syndrome.