CFL2 (gene)
Encyclopedia
Cofilin 2 also known as CFL2 is a protein
which in humans is encoded by the CFL2 gene.
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. 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. 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.
. Deficiency of cofilin-2 may result in reduced depolymerization of actin filaments, causing their accumulation in nemaline bodies, minicores, and, possibly concentric laminated bodies.
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
which in humans is encoded by the CFL2 gene.
Function
CofilinCofilin
ADF/cofilin is a family of actin-binding proteins which disassembles actin filaments.Three highly conserved and highly identical genes belonging to this family have been described in human and mice:...
is a widely distributed intracellular actin
Actin
Actin is a globular, roughly 42-kDa moonlighting protein found in all eukaryotic cells where it may be present at concentrations of over 100 μM. It is also one of the most highly-conserved proteins, differing by no more than 20% in species as diverse as algae and humans...
-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) 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 myopathyNemaline myopathy
Nemaline myopathy is a congenital, hereditary neuromuscular disorder that causes muscle weakness, generally nonprogressive, of varying severity....
. Deficiency of cofilin-2 may result in reduced depolymerization of actin filaments, causing their accumulation in nemaline bodies, minicores, and, possibly concentric laminated bodies.