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Gene : ACTA1 Homo sapiens

Name  ? actin alpha 1, skeletal muscle Cytological Location  1q42.13
Brief Description  actin alpha 1, skeletal muscle
Description  The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause a variety of myopathies, including nemaline myopathy, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects with manifestations such as hypotonia. [provided by RefSeq, Sep 2019]
  • synonyms:
  • nemaline myopathy type 3,
  • OTTHUMG00000038006,
  • SHPM,
  • ACTA,
  • NEM2,
  • ASMA,
  • NEM1,
  • J00068,
  • NM_001100,
  • uc001htm.4,
  • NEM3,
  • CFTD1,
  • CFTD,
  • NEM3,
  • CFTDM,
  • HGNC:129,
  • ACTA,
  • MPFD,
  • ACTA1
  • identifiers:
  • 58,
  • ENSG00000143632,
  • ACTA1

Genome feature

Region: gene ? Length: 2850  
Location: 1:229431245-229434094 reverse strand Cyto location: 1q42.13

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3 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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60 SN Ps

5 Cross References

18 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results