Involvement in disease
Cardiomyopathy, dilated 1C, with or without left ventricular non-compaction (CMD1C); Left ventricular non-compaction 3 (LVNC3); Myopathy, myofibrillar, 4 (MFM4)
Subcellular Location
Cytoplasm, perinuclear region. Cell projection, pseudopodium. Cytoplasm, cytoskeleton. Cytoplasm, myofibril, sarcomere, Z line. Note=Localized to the cytoplasm around nuclei and pseudopodia of undifferentiated cells and detected throughout the myotubes of differentiated cells. Colocalizes with ACTN2 at the Z-lines.