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 - Sarcomeric Alpha Actinin protein (Tagged-His Tag) (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.