CFL2
Cofilins (CFLs) are widely distributed intracellular actin-modulating proteins that bind and depolymerize filamentous F-actin and inhibit the polymerization of monomeric G-actin in a pH-dependent manner.
Cofilin-2 (CFL2) is a member of the AC group of proteins that also includes cofilin-1 (CFL1) and destrin (DSTN) (MIM.609114), all of which regulate actin-filament dynamics.
The CFL2 gene encodes a skeletal muscle-specific isoform localized to the thin filaments, where it exerts its effect on actin, in part through interactions with tropomyosins.
Pathology
nemaline myopathy with minicores type 7 with some unusual histopathologic and clinical features (NEM7) (MIM.610687)
References
Agrawal, P. B.; Greenleaf, R. S.; Tomczak, K. K.; Lehtokari, V.-L.; Wallgren-Pettersson, C.; Wallefeld, W.; Laing, N. G.; Darras, B. T.; Maciver, S. K.; Dormitzer, P. R.; Beggs, A. H. : Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2. Am. J. Hum. Genet. 80: 162-167, 2007. PMID : 17160903