ACTA1

gene product
ACTA, NEM3
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 nemaline myopathy type 3, 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. [provided by RefSeq, Jul 2008]
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Antibodypedia Validation Initiative

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1226 antibodies from 40 providers.

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AntibodyRefsTypeWBELICCIPIHCFC
Invitrogen Antibodies
15 antibodies
GeneTex
12 antibodies
antibodies-online
545 antibodies
Novus Biologicals
183 antibodies