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CFL2 cofilin 2

Also known as: NEM7

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]

Genomic context

Location:
14q13.1
Sequence:
Chromosome: 14; NC_000014.9 (34710382..34714823, complement)
Total number of exons:
6

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