This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, integrity, and intercellular signaling. The encoded protein is a major constituent of the contractile apparatus and one of the two nonmuscle cytoskeletal actins that are ubiquitously expressed. Mutations in this gene cause Baraitser-Winter syndrome 1, which is characterized by intellectual disability with a distinctive facial appearance in human patients. Numerous pseudogenes of this gene have been identified throughout the human genome. [provided by RefSeq, Aug 2017]
Alternative Names
A-X actin A-X actin-like protein Actin is a protein with a high degree of evolutionary conservation that undergoes polymerization to generate filaments which subsequently assemble into interconnected networks within the cytoplasm of cells. actin beta cytoplasmic Bact actin beta actin beta cytoskeletal actin beta-actin cytoplasmic 1 cytoplasmic beta-actin cytoplasmic protein cytoskeletal beta actin I(2)-actin melanoma X-actin PS1TP5-binding protein 1