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Actin Alpha 1, Skeletal Muscle (ACTa1)

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ACT-A1; ASMA; CFTD; CFTD1; CFTDM; MPFD; NEM1; NEM2; NEM3

Actin Alpha 1, Skeletal Muscle (ACTa1)
CCC B634
HGNC 129
MGI 87902
PubMed 19562689
RGD 2025
UniProt P68133
Wiki ACTA1

  • Actin alpha 1 which is expressed in skeletal muscle is one of six different actin isoforms which have been identified. Actins are highly conserved proteins that are involved in cell motility, structure and integrity. Alpha actins are a major constituent of the contractile apparatus. Skeletal alpha actin expression is induced by stimuli and conditions known to cause muscle formation. Such conditions result in fusion of committed cells (satellite cells) into myotubes, to form muscle fibers. Skeletal actin itself, when expressed, causes expression of several other "myogenic genes", which are essential to muscle formation. One key transcription factor that activates skeletal actin gene expression is Serum Response Factor ("SRF"), a protein that binds to specific sites on the promoter DNA of the actin gene.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPB634Mi01 Recombinant Actin Alpha 1, Skeletal Muscle (ACTa1) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies n/a Monoclonal Antibody to Actin Alpha 1, Skeletal Muscle (ACTa1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Actin Alpha 1, Skeletal Muscle (ACTa1) Polyclonal Antibody Customized Service Offer
Assay Kits SEB634Mi ELISA Kit for Actin Alpha 1, Skeletal Muscle (ACTa1) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPB634Mi01 Recombinant Actin Alpha 1, Skeletal Muscle (ACTa1) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies n/a Monoclonal Antibody to Actin Alpha 1, Skeletal Muscle (ACTa1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Actin Alpha 1, Skeletal Muscle (ACTa1) Polyclonal Antibody Customized Service Offer
Assay Kits SEB634Mi ELISA Kit for Actin Alpha 1, Skeletal Muscle (ACTa1) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPB634Mi01 Recombinant Actin Alpha 1, Skeletal Muscle (ACTa1) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies n/a Monoclonal Antibody to Actin Alpha 1, Skeletal Muscle (ACTa1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Actin Alpha 1, Skeletal Muscle (ACTa1) Polyclonal Antibody Customized Service Offer
Assay Kits SEB634Mi ELISA Kit for Actin Alpha 1, Skeletal Muscle (ACTa1) Enzyme-linked immunosorbent assay for Antigen Detection.
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  10. "Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene."Am. J. Hum. Genet. 68:1333-1343(2001) [PubMed] [Europe PMC] [Abstract]
  11. "Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1)."Neuromuscul. Disord. 13:519-531(2003) [PubMed] [Europe PMC] [Abstract]
  12. "Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene."Neuromuscul. Disord. 11:35-40(2001) [PubMed] [Europe PMC] [Abstract]
  13. "Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations."Ann. Neurol. 56:86-96(2004) [PubMed] [Europe PMC] [Abstract]
  14. "Actin mutations are one cause of congenital fibre type disproportion."Ann. Neurol. 56:689-694(2004) [PubMed] [Europe PMC] [Abstract]
  15. "Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms."Hum. Mol. Genet. 13:1727-1743(2004) [PubMed] [Europe PMC] [Abstract]
  16. "Missense mutations of ACTA1 cause dominant congenital myopathy with cores."J. Med. Genet. 41:842-848(2004) [PubMed] [Europe PMC] [Abstract]
  17. "Follow-up of nemaline myopathy in two patients with novel mutations in the skeletal muscle alpha-actin gene (ACTA1)."Neuromuscul. Disord. 14:471-475(2004) [PubMed] [Europe PMC] [Abstract]
  18. "Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred."Neuromuscul. Disord. 16:113-121(2006) [PubMed] [Europe PMC] [Abstract]
  19. "Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation."Neuromuscul. Disord. 16:548-552(2006) [PubMed] [Europe PMC] [Abstract]
  20. "The pathogenesis of ACTA1-related congenital fiber type disproportion."Ann. Neurol. 61:552-561(2007) [PubMed] [Europe PMC] [Abstract]
  21. "Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness."Ann. Neurol. 62:597-608(2007) [PubMed] [Europe PMC] [Abstract]