CFL2

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]

Full Name

cofilin 2

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).

Biological Process

Actin filament depolymerization Source: UniProtKB
Actin filament fragmentation Source: GO_Central
Actin filament severing Source: GO_Central
Cell motility Source: GO_Central
Muscle cell cellular homeostasis Source: Ensembl
Positive regulation of actin filament depolymerization Source: UniProtKB
Sarcomere organization Source: Ensembl
Skeletal muscle tissue development Source: Ensembl

Cellular Location

Cytoskeleton; Nucleus matrix. Colocalizes with CSPR3 in the Z line of sarcomeres.

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.

PTM

The phosphorylation of Ser-24 may prevent recognition of the nuclear localization signal.