CFL2

Also known as NEM7, cofilin 2

Cofilin 2 (muscle) also known as CFL2 is a protein which in humans is encoded by the CFL2 gene.

Gene data

CFL2

Name: cofilin 2
Type: protein-coding
Position: 34,709,113–34,714,823 (−)
Aliases: NEM7
Ensembl: ENSG00000165410
RefSeq RNA: NM_001243645.2, NM_021914.8, NM_138638.5, NR_028130.2, NR_028131.2
RefSeq protein: NP_001230574.1, NP_068733.1, NP_619579.1

This gene encodes an intracellular protein that is involved in the regulation of actin-filament dynamics. This protein is a major component of intranuclear and cytoplasmic actin rods. It can bind G- and F-actin in a 1:1 ratio of cofilin to actin, and it reversibly controls actin polymerization and depolymerization in a pH-dependent manner. Mutations in this gene cause nemaline myopathy type 7, a form of congenital myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009].

Gene Ontology

Biological process

actin polymerization or depolymerization

Article

5 sections

Contents

Function
Clinical significance
References
External links
Further reading

Cofilin 2 (muscle) also known as CFL2 is a protein which in humans is encoded by the CFL2 gene.

==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. 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.