Description
Cofilin 2 (muscle), also known as CFL2, is a protein which in humans is encoded by the CFL2 gene. It is mapped to 14q12. This gene encodes an intracellular protein that is involved in the regulation of actin-filament dynamics. And 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