Recombinant Human Actin, alpha skeletal muscle (ACTA1)

Uniprot Id

P68133

Target Species

Human

Target Name

ACTA1

Target Full Name

Actin, alpha skeletal muscle

Target Function

Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.

Target Involvement

Nemaline myopathy 3 (NEM3); Myopathy, actin, congenital, with excess of thin myofilaments (MPCETM); Myopathy, congenital, with fiber-type disproportion (CFTD); Myopathy, scapulohumeroperoneal (SHPM)

Target Subcellular Location

Cytoplasm, cytoskeleton.

Target Protein Families

Actin family

Target Research Area

Signal Transduction

Target Synonyms

a actin; ACTA; ACTA1; ACTA2; ACTC; ACTC1; Actin; ACTS_HUMAN; ACTSA; Alpha 2 actin; alpha skeletal muscle; Alpha-actin-1; Cardiac muscle alpha actin 1; Skeletal muscle alpha actin 1

Target Background

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 a variety of myopathies, including nemaline myopathy, 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 with manifestations such as hypotonia.