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CFL2

CFL2

The information on this page was automatically extracted from online scientific databases.

What is the official name of the CFL2 gene?

The official name of this gene is “cofilin 2 (muscle).”

CFL2 is the gene's official symbol. The CFL2 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the CFL2 gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

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]

From UniProtThis link leads to a site outside Genetics Home Reference.:

Controls reversibly actin polymerization and depolymerization in a pH-sensitive manner. It has the ability to bind G- and F-actin in a 1:1 ratio of cofilin to actin. It is the major component of intranuclear and cytoplasmic actin rods.

How are changes in the CFL2 gene related to health conditions?

Genetics Home Reference provides information about nemaline myopathy, which is associated with changes in the CFL2 gene.
UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the CFL2 gene's known or predicted involvement in human disease.

Nemaline myopathy 7 (NEM7): A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. Nemaline myopathy type 7 presents at birth with hypotonia and generalized weakness. Major motor milestones are delayed, but independent ambulation is achieved.[1]This link leads to a site outside Genetics Home Reference. The disease is caused by mutations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the CFL2 gene.
  • Nemaline myopathy 7[1]This link leads to a site outside Genetics Home Reference.
UniProt and NCBI Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
 Article
Number
Main Topic
[1]

Where is the CFL2 gene located?

Cytogenetic Location: 14q12

Molecular Location on chromosome 14: base pairs 34,710,381 to 34,714,822

The CFL2 gene is located on the long (q) arm of chromosome 14 at position 12.

The CFL2 gene is located on the long (q) arm of chromosome 14 at position 12.

More precisely, the CFL2 gene is located from base pair 34,710,381 to base pair 34,714,822 on chromosome 14.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about CFL2?

You and your healthcare professional may find the following resources about CFL2 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the CFL2 gene or gene products?

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding CFL2?

actin ; alternative splicing ; congenital ; gene ; hypotonia ; intracellular ; motor ; pH ; protein ; rods ; splicing ; transcript

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Published: August 25, 2014