ACTN2/ACTN3

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.,

muscle system process, protein complex assembly, muscle contraction, cell-substrate junction assembly, cell adhesion,cell-matrix adhesion, regulation of cell death, biological adhesion, cell projection organization, cell projection assembly,microspike assembly, cell-substrate adhesion, cell junction assembly, cell junction organization, regulation of apoptosis, regulation of programmed cell death, macromolecular complex subunit organization, focal adhesion formation, protein oligomerization, protein homooligomerization, protein tetramerization, protein homotetramerization,macromolecular complex assembly, protein complex biogenesis,

Cytoplasm, myofibril, sarcomere, Z line . Colocalizes with MYOZ1 and FLNC at the Z-lines of skeletal muscle.

Expressed in both skeletal and cardiac muscle.