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 and Typical Congenital Nemaline Myopathy. Among its related pathways are Apoptotic Pathways in Synovial Fibroblasts and Immune response CCR3 signaling in eosinophils. Gene Ontology (GO) annotations related to this gene include actin binding. An important paralog of this gene is CFL1.
UniProtKB/Swiss-Prot Summary for CFL2 Gene
Controls reversibly actin polymerization and depolymerization in a pH-sensitive manner. Its F-actin depolymerization activity is regulated by association with CSPR3 (PubMed:19752190). 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. Required for muscle maintenance. May play a role during the exchange of alpha-actin forms during the early postnatal remodeling of the sarcomere (By similarity).