Aliases for CFHR1 Gene
External Ids for CFHR1 Gene
Previous HGNC Symbols for CFHR1 Gene
Previous GeneCards Identifiers for CFHR1 Gene
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. [provided by RefSeq, Oct 2009]
GeneCards Summary for CFHR1 Gene
CFHR1 (Complement Factor H Related 1) is a Protein Coding gene. Diseases associated with CFHR1 include Hemolytic Uremic Syndrome, Atypical 1 and Macular Degeneration, Age-Related, 1. Among its related pathways are Complement and coagulation cascades. An important paralog of this gene is CFHR2.
UniProtKB/Swiss-Prot Summary for CFHR1 Gene
Involved in complement regulation. The dimerized forms have avidity for tissue-bound complement fragments and efficiently compete with the physiological complement inhibitor CFH. Can associate with lipoproteins and may play a role in lipid metabolism.