FLNC/A0204

Filamins, such as FLNC, also known as A0204, are a family of actin-binding proteins involved in reshaping of the cytoskeleton.

Filamins, such as FLNC, also known as A0204, are a family of actin-binding proteins involved in reshaping of the cytoskeleton. Filamin proteins function by crosslinking actin filaments into orthogonal networks in cortical cytoplasm and participate in the anchoring of membrane proteins for the actin cytoskeleton. Remodeling of the cytoskeleton is central to the modulation of cell shape and migration. FLNC is mainly expressed in muscle cells plus some expression in hippocampal CA1 and dentate gyrus regions. A heterozygous mutation in the FLNC gene has been shown to underlie autosomal dominant filamin C-related myofibrillar myopathy. Homozygous mutant mice die at birth with severe deficits in myogenesis.