信號通路: Focal adhesion;Adherens_Junction;Adherens_Junction;Leukocyte transendothelial migration;Regulates Actin and Cytoskeleton;Systemic lupus erythematosus;Arrhythmogenic right ventricular cardiomyopathy (ARVC);
功能: disease:Defects in ACTN2 are the cause of cardiomyopathy dilated type 1AA (CMD1AA) [MIM:612158]. 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.,function:F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.,similarity:Belongs to the alpha-actinin family.,similarity:Contains 1 actin-binding domain.,similarity:Contains 2 CH (calponin-homology) domains.,similarity:Contains 2 EF-hand domains.,similarity:Contains 4 spectrin repeats.,subcellular location:Colocalizes with MYOZ1 and FLNC at the Z-lines of skeletal muscle.,subunit:Homodimer; antiparallel. Also forms heterodimers with ACTN3. Interacts with ADAM12, MYOZ1, MYOZ2 and MYOZ3. Interacts via its C-terminal region with the LDB3 PDZ domain. Interacts with XIRP2.,tissue specificity:Expressed in both skeletal and cardiac muscle.,
相關產(chǎn)品: RS0001,RS0002,YM3028,YM3029
細胞定位: Cytoplasm, myofibril, sarcomere, Z line . Colocalizes with MYOZ1 and FLNC at the Z-lines of skeletal muscle.
組織表達: Expressed in both skeletal and cardiac muscle.
信號通路: Focal adhesion;Adherens_Junction;Adherens_Junction;Leukocyte transendothelial migration;Regulates Actin and Cytoskeleton;Systemic lupus erythematosus;Arrhythmogenic right ventricular cardiomyopathy (ARVC);
功能: disease:Defects in ACTN2 are the cause of cardiomyopathy dilated type 1AA (CMD1AA) [MIM:612158]. 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.,function:F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.,similarity:Belongs to the alpha-actinin family.,similarity:Contains 1 actin-binding domain.,similarity:Contains 2 CH (calponin-homology) domains.,similarity:Contains 2 EF-hand domains.,similarity:Contains 4 spectrin repeats.,subcellular location:Colocalizes with MYOZ1 and FLNC at the Z-lines of skeletal muscle.,subunit:Homodimer; antiparallel. Also forms heterodimers with ACTN3. Interacts with ADAM12, MYOZ1, MYOZ2 and MYOZ3. Interacts via its C-terminal region with the LDB3 PDZ domain. Interacts with XIRP2.,tissue specificity:Expressed in both skeletal and cardiac muscle.,
相關產(chǎn)品: RS0001,RS0002,YM3028,YM3029
細胞定位: Cytoplasm, myofibril, sarcomere, Z line . Colocalizes with MYOZ1 and FLNC at the Z-lines of skeletal muscle.
組織表達: Expressed in both skeletal and cardiac muscle.
科研貨號: PLA005087
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