CFL2 (gene)
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Cofilin 2 (muscle) also known as CFL2 is a protein which in humans is encoded by the CFL2 gene.[1][2]
Function
Cofilin is a widely distributed intracellular actin-modulating protein that binds and depolymerizes filamentous F-actin and inhibits the polymerization of monomeric G-actin in a pH-dependent manner.[2] Cofilin-2 is a member of the AC group of proteins that also includes cofilin-1 (CFL1) and destrin (DSTN), all of which regulate actin-filament dynamics.[3][4] The CFL2 gene encodes a skeletal muscle-specific isoform[5] localized to the thin filaments, where it exerts its effect on actin, in part through interactions with tropomyosins.[6]
Clinical significance
Mutations in the CFL2 gene are associated with nemaline myopathy. Deficiency of cofilin-2 may result in reduced depolymerization of actin filaments, causing their accumulation in nemaline bodies, minicores, and, possibly concentric laminated bodies.[7]
References
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External links
Further reading
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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