Description
Product Characteristics: Cofilin is a widely distributed intracellular actin-modulating protein that binds and depolymerizes filamentous F-actin and inhibits the polymerization of monomeric G-actin in a pH -dependent manner. (Gillett et al., 1996 [PubMed 8800436]). Cofilin-2 is a member of the AC group of proteins that also includes cofilin-1 (CFL1) and destrin (DSTN, MIM 609114), all of which regulate actin-filament dynamics (Bamburg et al., 1999 [PubMed 10461190], Maciver and Hussey, 2002). The CFL2 gene encodes a skeletal muscle-specific isoform (Vartiainen et al., 2002 [PubMed 11809832]) localized to the thin filaments, where it exerts its effect on actin, in part through interactions with tropomyosins (Ono and Ono, 2002 [PubMed 11901171]).[supplied by OMIM]
Cellular Localization: Nucleus matrix, Cytoplasm, cytoskeleton
Target Information: This gene encodes an intracellular protein that is involved in the regulation of actin-filament dynamics. This protein is a major component of intranuclear and cytoplasmic actin rods. It can bind G- and F-actin in a 1:1 ratio of cofilin to actin, and it reversibly controls actin polymerization and depolymerization in a pH-dependent manner. Mutations in this gene cause nemaline myopathy type 7, a form of congenital myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]