Description
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.
Note:Due to the high antibody titer, it is advisable to be diluted before use. Please dilute 5μL of the antibody solution with 45μL of PBS solution, containing 50% glycerol. The diluted antibody can be stored at -20°C.