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Gene : CFL2 Homo sapiens

Name  ? cofilin 2 Cytological Location  14q13.1
Brief Description  cofilin 2
Description  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]
  • synonyms:
  • AF087867,
  • uc001wsh.4,
  • nemaline myopathy type 7,
  • NEM7,
  • HGNC:1875,
  • NM_138638,
  • CFL2,
  • cofilin 2 (muscle),
  • OTTHUMG00000029536,
  • NEM7
  • identifiers:
  • 1073,
  • ENSG00000165410,
  • CFL2

Genome feature

Region: gene ? Length: 5711  
Location: 14:34709113-34714823 reverse strand Cyto location: 14q13.1


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Proteins

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SNPs

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Disease

1 Diseases

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3753 SN Ps

5 Cross References

18 Data Sets

9 Homologues

0 Located Features

97 Rna Seq Results