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cfl2

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Official Full Name
cofilin 2 (muscle)
Background
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.
Synonyms
CFL2; cofilin 2 (muscle); cofilin-2; cofilin, muscle isoform; NEM7; zgc:77288

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