DISEASES

Disease-gene associations mined from literature

Literature associating FBN2 and distal arthrogryposis type 3

FBN2 [ENSP00000424571]

Fibrillin-2 C-terminal peptide; [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