The Atypical HUS Foundation

Factor H Mutations

Seeking to Credit this Unknown Source

Atypical hemolytic uremic syndrome (atypical HUS, or aHUS) is a rare, chronic disease that mostly affects children. Atypical hemolytic uremic syndrome mutations appear on a protein called “factor H” that is produced in the liver. Factor H has multiple functions, one of which enables a key complement system which controls the body’s ability to defend against infection. Factor H abnormalities are usually presented in infancy or early childhood, although they can present in adulthood. Usually there is just one mutation, appearing on any one of the 20 short consensus repeats (SCRs) in a Factor H protein. The highest percentage of mutations occur in the last six SCRs in the string – SCRs 15 to 20.

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