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)
The cofilin pathway is a major determinant of metastasis. The overall activity of the cofilin pathway, and not that of any single gene within the pathway, determines the invasive and metastatic phenotype of tumour cells. Inhibitors directed at the output of the cofilin pathway will have therapeutic benefit in combating metastasis.
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#
Reviews
Wang W, Eddy R, Condeelis J. The cofilin pathway in breast cancer invasion and metastasis. Nat Rev Cancer. 2007 Jun;7(6):429-40. PMID: #17522712#
Huang TY, Dermardirossian C, Bokoch GM. Cofilin phosphatases and regulation of actin dynamics. Curr Opin Cell Biol. 2006 Feb;18(1):26-31. PMID: #16337782#
Bamburg JR, Wiggan OP. ADF/cofilin and actin dynamics in disease. Trends Cell Biol. 2002 Dec ;12(12):598-605. PMID : #12495849#