rs2529715079
This variant is located in the CFHR1 gene.
▶ClinVar annotation
About CFHR1
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]
View all CFHR1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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