Gene: CFHR1

Alternate names for this Gene: CFHL|CFHL1|CFHL1P|CFHR1P|FHR-1|FHR1|H36|H36-1|H36-2|HFL1|HFL2

Gene Summary: This gene encodes a secreted protein belonging to the complement factor H protein family. It binds to Pseudomonas aeruginosa elongation factor Tuf together with plasminogen, which is proteolytically activated. It is proposed that Tuf acts as a virulence factor by acquiring host proteins to the pathogen surface, controlling complement, and facilitating tissue invasion. Mutations in this gene are associated with an increased risk of atypical hemolytic-uremic syndrome.

Gene is located in Chromosome: 1

Location in Chromosome : 1q31.3

Description of this Gene: complement factor H related 1

Type of Gene: protein-coding

rs432007 in CFHR1 gene and Age related macular degeneration PMID 23326517 2013 Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.