May function as an adapter in striated muscle to couple protein kinase C-mediated signaling via its LIM domains to the cytoskeleton.
Expressed primarily in skeletal muscle and to a lesser extent in heart. Also detected in brain and placenta.
Involvement in disease
Defects in LDB3 are the cause of cardiomyopathy dilated type 1C (CMD1C) [MIM:601493]. 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. Defects in LDB3 are the cause of left ventricular non-compaction type 3 (LVNC3) [MIM:601493]. Left ventricular non-compaction is characterized by numerous prominent trabeculations and deep intertrabecular recesses in hypertrophied and hypokinetic segments of the left ventricle. Defects in LDB3 are the cause of myopathy myofibrillar ZASP-related (MFM-ZASP) [MIM:609452]. A neuromuscular disorder characterized by distal and proximal muscle weakness with signs of cardiomyopathy and neuropathy.
Cytoplasm > perinuclear region. Cell projection > pseudopodium. Cytoplasm > cytoskeleton. Cytoplasm > myofibril > sarcomere > Z line. 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.