LDB3
Function
May function as an adapter in striated muscle to couple protein kinase C-mediated signaling via its LIM domains to the cytoskeleton.
Involvement in disease
Cardiomyopathy, dilated, 1C, with or without left ventricular non-compaction
CMD1C
A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Cardiomyopathy dilated type 1C is associated with left ventricular non-compaction in some patients. Left ventricular non-compaction is characterized by numerous prominent trabeculations and deep intertrabecular recesses in hypertrophied and hypokinetic segments of the left ventricle.
None
The disease is caused by variants affecting the gene represented in this entry.
Left ventricular non-compaction 3
LVNC3
A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC3 is an autosomal dominant condition.
None
The disease is caused by variants affecting the gene represented in this entry.
Myopathy, myofibrillar, 4
MFM4
A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM4 is characterized by distal and proximal muscle weakness with signs of cardiomyopathy and neuropathy.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Expressed primarily in skeletal muscle and to a lesser extent in heart. Also detected in brain and placenta.
Cellular localization
- 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.
Alternative names
KIAA0613, ZASP, LDB3, LIM domain-binding protein 3, Protein cypher, Z-band alternatively spliced PDZ-motif protein