Marfan syndrome is due to mutation of:
Correct Answer: Fibrillin
Description: Marfan syndrome is caused by mutations in the FBN1 gene on chromosome 15, which encodes Fibrillin-1. Fibrillin normally binds to TGF-b (Transforming Growth Factor) Mutated fibrillin can't bind to TGF-b. Elevated levels of TGF-b contribute to the features of Ectopia lentis, arachnodactyly, and aoic dilatation.
Category:
Biochemistry
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