Aliases for CFL2 Gene
External Ids for CFL2 Gene
Previous GeneCards Identifiers for CFL2 Gene
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]
GeneCards Summary for CFL2 Gene
CFL2 (Cofilin 2) is a Protein Coding gene. Diseases associated with CFL2 include nemaline myopathy 7, autosomal recessive and typical congenital nemaline myopathy. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and Regulation of actin cytoskeleton. GO annotations related to this gene include actin binding. An important paralog of this gene is DSTN.
UniProtKB/Swiss-Prot for CFL2 Gene
Controls reversibly actin polymerization and depolymerization in a pH-sensitive manner. It has the ability to bind G- and F-actin in a 1:1 ratio of cofilin to actin. It is the major component of intranuclear and cytoplasmic actin rods (By similarity).