Cofilin 2 (muscle) also known as CFL2 is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, res ...
which in humans is encoded by the ''CFL2'' gene.
Function
Cofilin
ADF/cofilin is a family of actin-binding proteins associated with the rapid depolymerization of actin microfilaments that give actin its characteristic dynamic instability. This dynamic instability is central to actin's role in muscle contractio ...
is a widely distributed intracellular
actin
Actin is a family of globular multi-functional proteins that form microfilaments in the cytoskeleton, and the thin filaments in muscle fibrils. It is found in essentially all eukaryotic cells, where it may be present at a concentration of ov ...
-modulating protein that binds and depolymerizes filamentous F-actin and inhibits the polymerization of monomeric G-actin in a pH-dependent manner.
Cofilin-2 is a member of the AC group of proteins that also includes cofilin-1 (
CFL1
Cofilin 1 (non-muscle; n-cofilin), also known as CFL1, is a human gene, part of the ADF/cofilin family.
Cofilin is a widely distributed intracellular actin-modulating protein that binds and depolymerizes filamentous F-actin and inhibits the polym ...
) and destrin (
DSTN), 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.
Clinical significance
Mutations in the ''CFL2'' gene are associated with
nemaline myopathy
Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a congenital, often hereditary neuromuscular disorder with many symptoms that can occur such as muscle weakness, hypoventilation, swallowing dysfunction, and impaired speech ...
. Deficiency of cofilin-2 may result in reduced depolymerization of actin filaments, causing their accumulation in nemaline bodies, minicores, and, possibly concentric laminated bodies.
References
External links
GeneReviews/NCBI/NIH/UW entry on Nemaline Myopathy*
Further reading
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