LIM domain-binding protein 3 (Z-band alternatively spliced PDZ-motif protein, protein cypher, LDB3, KIAA0613, ZASP)
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Function
- adapter in striated muscle to couple protein kinase C- mediated signaling via its LIM domains to the cytoskeleton
- interacts with ACTN2 C-terminal region,MYOZ1, MYOZ2, MYOZ3
Compartment
- localized to the cytoplasm around nuclei, pseudopodia of undifferentiated cells & myotubes of differentiated cells
- colocalizes with ACTN2 at the Z-lines
Alternative splicing
named isoforms=6
Expression
- expressed primarily in skeletal muscle > heart, brain, placenta
Pathology
- defects in LDB3 are a cause of dilated cardiomyopathy 1A with or without left ventricular non-compaction
- defects in LDB3 are the cause of ZASP-related myofibrillar myopathy distal more than proximal muscle weakness with signs of cardiomyopathy and neuropathy.