CFL2
Function
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).
Involvement in disease
Nemaline myopathy 7
NEM7
A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. Nemaline myopathy type 7 presents at birth with hypotonia and generalized weakness. Major motor milestones are delayed, but independent ambulation is achieved.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
The phosphorylation of Ser-24 may prevent recognition of the nuclear localization signal.
Sequence Similarities
Belongs to the actin-binding proteins ADF family.
Tissue Specificity
Isoform CFL2b is expressed predominantly in skeletal muscle and heart. Isoform CFL2a is expressed in various tissues.
Cellular localization
- Nucleus matrix
- Cytoplasm
- Cytoskeleton
- Colocalizes with CSPR3 in the Z line of sarcomeres.
Alternative names
Cofilin-2, CFL2