Disease:Defects in ACTB are a cause of dystonia juvenile-onset (DYTJ) [MIM:607371]. DYTJ is a form of dystonia with juvenile onset. Dystonia is defined by the presence of sustained involuntary muscle contraction , often leading to abnormal postures. DYTJ patients manifest progressive , generalized , dopa-unresponsive dystonia , developmental malformations and sensory hearing loss. ,Function:Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells. ,miscellaneous:In vertebrates 3 main groups of actin isoforms , alpha , beta and gamma have been identified. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins coexist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. ,similarity:Belongs to the actin family. ,subunit:Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to 4 others. Component of the BAF complex , which includes at least actin (ACTB) , ARID1A , ARID1B/BAF250 , SMARCA2 , SMARCA4/BRG1 , ACTL6A/BAF53 , ACTL6B/BAF53B , SMARCE1/BAF57 SMARCC1/BAF155 , SMARCC2/BAF170 , SMARCB1/SNF5/INI1 , and one or more of SMARCD1/BAF60A , SMARCD2/BAF60B , or SMARCD3/BAF60C. In muscle cells , the BAF complex also contains DPF3. Found in a complex with XPO6 , Ran , ACTB and PFN1. Interacts with XPO6. ,
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