DISEASES

Disease-gene associations mined from literature

Literature associating FBN2 and cataract 4 multiple types

FBN2 [ENSP00000424571]

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 ...

Linkouts:  STRING  Pharos  UniProt