A protein involved in binding actin to the membrane of cytoskeletal isoform found along the microfilament bundles and adherens-type junction as well as in cardiac, skeletal andsmooth muscle isoforms that localized at the Z-disc.
Alpha-actinin gene is mapped on chromosome 14q22-q24 containing 22 exons with 3 transcript variants isoforms belong to the spectrin family representing cytoskeletal proteins. It carry out various functions in different cell types like in myofibrillar cells that constitutes a main component of Z-discs and shares structural homology with spectrin and dystrophin.
Alpha-actinin forms an anti-parallel rod-shaped dimer with one actin binding domain at each end of the rod which is mostly expressed in cardiac and skeletal muscle. It is a binding protein to fasten actin to various intracellular structures.
Alpha-actinin gene mutation is associated in bleeding disorder, an autosomal macrothrombocytopenia characterized by no or mild bleeding tendency like epistaxis. It is as well associated with hereditary heart disorder typified by ventricular hypertrophy which includes dyspnea, syncope, palpitations and chest pain.
Gene name: ACTN2
Protein name: Alpha-actinin-2