ACTA1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human ACTA1 wild-type allele is located in the vicinity of 1q42.13 and is approximately 4 kb in length. This allele, which encodes actin, alpha skeletal muscle protein, is involved in sarcomere formation and contractile activity. Mutation of the gene is associated with scapulohumeroperoneal myopathy, nemaline myopathy 3, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion 1.

**Synonyms:** - ACTA - ASMA - Actin Alpha 1, Skeletal Muscle wt Allele - Actin, Alpha, Skeletal Muscle 1 Gene - CFTD - CFTD1 - CFTDM - MPFD - NEM1 - NEM2 - NEM3 - Nemaline Myopathy Type 3 Gene - SHPM