Literature associating FBN2 and distal arthrogryposis type 6
Fibrillin 2; Fibrillin-2: Fibrillins are structural components of 10- 12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-2-containing microfibrils regulate the early process of elastic fiber assembly. Regulates osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively; Belongs to the fibrillin family.
Synonyms: FBN2, FBN2p, hFBN2, D6REJ2, D6RJI3 ...