Overview Structure rich in proline, lysine, glycine login to view 1 more bullet fibrillin protein binds to tropoelastin to form elastic fibers login to view 9 more bullets Function is an elastic protein login to view 3 more bullets degraded by elastase login to view 12 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