F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.
Expressed in both skeletal and cardiac muscle.
Defects in ACTN2 are the cause of cardiomyopathy dilated type 1AA (CMD1AA) [MIM:612158]. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
SDS-PAGE - Recombinant Human Sarcomeric Alpha Actinin protein (ab92234)
The image shows an electrophoretic assay performed using an Agilent 5100 ALP. In some images coloured control bands can be seen at 15 kDa (green) and/or 240 kDa (purple). The protein-specific band is blue.
has not yet been referenced specifically in any publications.