Describe the effect of a mutation in the gene that encodes for the C3 protein of...

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Describe the effect of a mutation in the gene that encodes forthe C3 protein of the complement pathway.

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Recent studies have revealed profound developmental consequences of mutations in genes encoding proteins of the lectin pathway of complement activation a central component of the innate immune system Apart from impairment of immunity against microorganisms it is known that hereditary deficiencies of this system predispose one to autoimmune conditions Polymorphisms in complement genes are linked to for example atypical hemolytic uremia and agedependent macular degeneration The complement system comprises three convergent pathways of activation the classical the alternative and the lectin pathway The recently discovered lectin pathway is less studied but polymorphisms in the plasma patternrecognition molecule mannanbinding lectin MBL are known to impact its level and polymorphisms in the MBLassociated serine protease2 MASP2 result in defects of complement activation Recent studies have described roles outside complement and immunity of another MBLassociated serine protease MASP3 in the etiology of 3MC See Answer

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