Gene Symbol | CFL2 |
Entrez Gene ID | 1073 |
Full Name | cofilin 2 |
Synonyms | NEM7 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Nemaline myopathy 7, autosomal recessive, 610687 (3) |