功能： disease:Defects in LDB3 are a cause of dilated cardiomyopathy with left ventricular non-compaction [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.,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.,disease:Defects in LDB3 are the cause of ZASP-related myofibrillar myopathy (MFM) [MIM:609452]. It is an autosomal dominant MFM that is characterized by distal more than proximal muscle weakness with signs of cardiomyopathy and neuropathy.,function:May function as an adapter in striated muscle to couple protein kinase C-mediated signaling via its LIM domains to the cytoskeleton.,similarity:Contains 1 PDZ (DHR) domain.,similarity:Contains 3 LIM zinc-binding domains.,subcellular location: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.,subunit:Interacts via its LIM domains with various PKC isoforms (By similarity). Interacts via its PDZ domain with the ACTN2 C-terminal region. Interacts with MYOZ1, MYOZ2 and MYOZ3.,tissue specificity:Expressed primarily in skeletal muscle and to a lesser extent in heart. Also detected in brain and placenta.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： 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.
组织表达： Expressed primarily in skeletal muscle and to a lesser extent in heart. Also detected in brain and placenta.
功能： disease:Defects in LDB3 are a cause of dilated cardiomyopathy with left ventricular non-compaction [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.,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.,disease:Defects in LDB3 are the cause of ZASP-related myofibrillar myopathy (MFM) [MIM:609452]. It is an autosomal dominant MFM that is characterized by distal more than proximal muscle weakness with signs of cardiomyopathy and neuropathy.,function:May function as an adapter in striated muscle to couple protein kinase C-mediated signaling via its LIM domains to the cytoskeleton.,similarity:Contains 1 PDZ (DHR) domain.,similarity:Contains 3 LIM zinc-binding domains.,subcellular location: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.,subunit:Interacts via its LIM domains with various PKC isoforms (By similarity). Interacts via its PDZ domain with the ACTN2 C-terminal region. Interacts with MYOZ1, MYOZ2 and MYOZ3.,tissue specificity:Expressed primarily in skeletal muscle and to a lesser extent in heart. Also detected in brain and placenta.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： 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.
组织表达： Expressed primarily in skeletal muscle and to a lesser extent in heart. Also detected in brain and placenta.
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