Overview Structure rich in proline, lysine, glycine unlike collagen, can exist in nonglycosylated forms fibrillin protein binds to tropoelastin to form elastic fibers Marfan's disease is caused by a defect in fibrillin login to view 8 more bullets Function is an elastic protein found in tissues where stretch is needed login to view 2 more bullets degraded by elastase α1-antitrypsin normally inhibits elastase login to view 2 more bullets excess elastase activity caused by α1-antitrypsin (AAT) deficiency login to view 8 more bullets Clinical Significance Disease Comments Marfan syndrome Almost exclusively AD Mutation in FBN gene encodes fibrillin-1 gene on chromosome 15 Patients are susceptible to aortic disease, MVP, lens dislocation, scoliosis, pectus deformity, arachnodactyly α1-antitrypsin deficiency Autosomal codominant inheritence α1-antitrypsin inhibits elastase Can lead to panacinar emphysema and hepatic disease