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FLASH GENE
Symbol CFHR1 contributors: mct/npt - updated : 11-02-2019
HGNC name complement factor H-related 1
HGNC id 4888
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --low  
age-down regulated in the frontal cortex
constitutional   deletion    
is considered to have a protective effect against age-related macular degeneration (AMD)(
constitutional germinal mutation      
in C3 glomerulopathies (C3G), a group of severe renal diseases with distinct patterns of glomerular inflammation and C3 deposition caused by complement dysregulation
Susceptibility
  • to age-related macular degeneration (AMD)
  • to atypical haemolytic uraemic syndrome (aHUS)
  • Variant & Polymorphism insertion/deletion
  • deletion of CFHR1 with deletion of CFHR3, associated with lower risk of age-related macular degeneration
  • CFHR1*A, is strongly associated with AMD
  • high frequency of CFHR1 deletion in aHUS patients is restricted to the subgroups of patients presenting with anti-FH autoantibodies or, to a lesser degree, CFI mutation(CFHR1 deletion plays a secondary role in susceptibility to aHUS) (Dragon-Durey 2009)
  • delta-CFHR3/CFHR1 confers a protective effect against AMD development independent of the sequence variants of factor H
  • common deletion of CFHR1 and CFHR3 and a rare deletion encompassing CFHR1 and CFHR4 as being protective against AMD
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    immunologyinfectious 
    exogenous CFHR1 provided during plasma exchange therapy may neutralize anti-factor H autoantibodies and help in the treatment of autoimmune atypical hemolytic uremic syndrome
    ANIMAL & CELL MODELS