The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly. [provided by RefSeq, Jul 2008]
- Anatomical structure morphogenesis
- Extracellular matrix organization
- Embryonic limb morphogenesis
- Positive regulation of bone mineralization
- Limb morphogenesis
- Contractural arachnodactyly, congenital
- Macular degeneration, early-onset
- Marfan syndrome
- Connective tissue disease
- Intracranial aneurysm
FBN2 Localizations – Subcellular Localization Database