ACTA1


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ACTA1

A gene on chromosome 1q42.13 that encodes alpha actin 1, which is expressed in skeletal muscle. 

Molecular pathology
ACTA1 mutations cause nemaline myopathy type 3, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores and congenital myopathy with fibre-type disproportion.
References in periodicals archive ?
The team sought to determine if ACTC could compensate for a lack of ACTA1.