ACTA1 Antibody – Mouse Monoclonal

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 nemaline myopathy type 3, 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. [provided by RefSeq, Jul 2008]

ACTA1: Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells. Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to 4 others. Interacts with TTID. Interacts (via its C-terminus) with USP25; the interaction occurs for all USP25 isoforms but is strongest for isoform USP25m in muscle differentiating cells. Belongs to the actin family.

Protein type: Cytoskeletal; Contractile; Cell development/differentiation; Motility/polarity/chemotaxis

Chromosomal Location of Human Ortholog: 1q42.13

Cellular Component: extracellular space; sarcomere; stress fiber; actin filament; cytosol; striated muscle thin filament; actin cytoskeleton

Molecular Function: protein binding; myosin binding; structural constituent of cytoskeleton; ADP binding; ATP binding

Biological Process: skeletal muscle fiber adaptation; muscle contraction; response to mechanical stimulus; muscle thin filament assembly; response to steroid hormone stimulus; response to extracellular stimulus; response to lithium ion; skeletal muscle fiber development; cell growth; muscle filament sliding

Disease: Nemaline Myopathy 3; Myopathy, Congenital, With Fiber-type Disproportion