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.
