Predicted to enable ATP binding activity and hydrolase activity. Involved in skeletal muscle fiber development. Predicted to be located in several cellular components, including filopodium; lamellipodium; and sarcomere. Predicted to be part of protein-containing complex. Predicted to be active in actin filament; stress fiber; and striated muscle thin filament. Is expressed in several structures, including alimentary system; brain; genitourinary system; heart; and limb. Used to study nemaline myopathy 3. Human ortholog(s) of this gene implicated in congenital myopathy 2B; congenital myopathy 2C; and nemaline myopathy 3. Orthologous to human ACTA1 (actin alpha 1, skeletal muscle).
MGI Description
PHENOTYPE: Homozygous mutant animals die by postnatal day 10 and display reduced body weight/size, atrophy of brown adipose tissue, depleted glycogen stores of the liver and skeletal muscles, muscle weakness, and scoliosis. [provided by MGI curators]