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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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
	System Type Disorder Pubmed immunology infectious   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