Filamin-A

Filamin-A is a protein that in humans is encoded by the FLNA gene. It is a member of the filamin family of proteins, which function as actin-binding and cellular matrix proteins. Filamin-A plays a crucial role in cell migration, cell adhesion, and signal transduction processes.

Structure

Filamin-A is a large dimeric protein with a molecular weight of approximately 280 kDa. Each monomer consists of an N-terminal actin-binding domain followed by 24 Ig-like repeats. The last repeat is followed by a hinge region and a dimerization domain.

Function

Filamin-A crosslinks actin filaments into orthogonal networks in cortical cytoplasm and participates in the anchoring of membrane proteins for the actin cytoskeleton. It may also regulate signal transduction by binding to various receptors and ion channels.

Clinical significance

Mutations in the FLNA gene are associated with several diseases, including periventricular nodular heterotopia, Ehlers-Danlos syndrome, and Otopalatodigital syndrome.

See also

• Filamin
• Actin
• Cell migration
• Cell adhesion
• Signal transduction