Actin, alpha skeletal muscle (ACTA1)

Actin, alpha skeletal muscle (ACTA1) is a highly conserved structural protein encoded by the ACTA1 gene, essential for muscle contraction and integrity in skeletal muscle fibers. It forms the core of the sarcomeric thin filaments within muscle cells and enables interactions with myosin, tropomyosin, and other proteins to create the contractile apparatus. ACTA1 is crucial for muscle formation, contributes to cell movement, and maintains cytoskeletal architecture. Mutations in ACTA1 cause several neuromuscular disorders, most notably nemaline myopathy, with over 400 reported pathogenic variants, characterized by muscle weakness, structural abnormalities, and impaired contraction. Although experimental therapies such as L-tyrosine supplementation and calcium sensitizers have shown promise in preclinical models, there are currently no approved drugs specifically targeting ACTA1. Diagnosis frequently relies on genetic testing and muscle biopsy, noting distinct structural myopathic features such as nemaline rods.

Other names

Actin alpha 1, skeletal muscleActin, alpha skeletal muscleAlpha-actin-1Skeletal muscle alpha-actinNemaline myopathy type 3 proteinNEM3ASMACFTDCFTD1CFTDMCMYO2ACMYO2BCMYO2CCMYP2ACMYP2BCMYP2CMPFDNEM1NEM2SHPM

L-tyrosine: proposed to improve muscle fiber function via metabolic or microstructural effects in certain myopathies. Calcium modulators: sensitize contractile machinery to Ca²⁺, improving muscle contraction in ACTA1-related disease models. Latrunculin B: disrupts actin filament polymerization (research use only).