Gene Symbol | CFHR1 |
Entrez Gene ID | 3078 |
Full Name | complement factor H related 1 |
Synonyms | CFHL,CFHL1,CFHL1P,CFHR1P,FHR1,H36-1,H36-2,HFL1,HFL2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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. [provided by RefSeq, Oct 2009]. |
Disorder MIM: | |
Disorder Html: | {Macular degeneration, age-related, reduced risk of}, 603075 (3); {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 (3) |