The product encoded by this gene belongs to the actinfamily of proteins, which are highly conserved proteins that play arole in cell motility, structure and integrity. Alpha, beta andgamma actin isoforms have been identified, with alpha actins beinga major constituent of the contractile apparatus, while beta andgamma actins are involved in the regulation of cell motility. Thisactin is an alpha actin that is found in skeletal muscle. Mutationsin this gene cause nemaline myopathy type 3, congenital myopathywith excess of thin myofilaments, congenital myopathy with cores,and congenital myopathy with fiber-type disproportion, diseasesthat lead to muscle fiber defects.
Pathway
Caspase cascade in apoptosis; Hypothetical Network for Drug Addiction; Myometrial Relaxation and Contraction Pathways; RhoA signaling pathway; Signaling events mediated by focal adhesion kinase; Striated Muscle Contraction
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