ACTA1

(redirected from actin, alpha skeletal muscle)

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 ?
10591 Hemoglobin subunit alpha 4 P68138 Bt.88733 Actin, alpha skeletal muscle 5 Q3T149 Bt.4415 Heat shock protein beta-1 6 A6QLL8 Bt.22533 Fructose-bisphosphate aldolase 7 Q9XSC6 Bt.3651 Creatine kinase M-type 8 Q5KR49 Bt.
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