HRP Mouse anti-Human, Mouse, Rat Actin, alpha skeletal muscle Monoclonal Antibody, HRP Conjugated [IgG]

ACTS_HUMAN; Actin, alpha skeletal muscle; Alpha-actin-1; ACTA1; ACTA; ASMA; CFTD; CFTD1; CFTDM; MPFD; NEM1; NEM2; NEM3; Actin alpha skeletal muscle; actin, alpha 1, skeletal muscle 1; actin, alpha 1, skeletal muscle; actina; actine; aktin; alpha Actin 1; alpha skeletal muscle Actin; alpha skeletal muscle; alpha-actin; Beta cytoskeletal actin; nemaline myopathy type 3.

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]