信号通路： Focal adhesion;Adherens_Junction;Adherens_Junction;Leukocyte transendothelial migration;Regulates Actin and Cytoskeleton;Systemic lupus erythematosus;Arrhythmogenic right ventricular cardiomyopathy (ARVC);
功能： function:F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.,polymorphism:About 18% of the world population lack a functional ACTN3 due to a stop codon polymorphism at position 577. The absence of a functional ACTN3 expression is not correlated with a disease state.,sequence caution:According to the human genome assembly there is a stop codon in position 577 which is only found in 18% of the world population.,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.,subunit:Homodimer; antiparallel. Also forms heterodimers with ACTN2. Interacts with MYOZ1.,tissue specificity:Expressed only in a subset of type 2 skeletal muscle fibers.,
信号通路： Focal adhesion;Adherens_Junction;Adherens_Junction;Leukocyte transendothelial migration;Regulates Actin and Cytoskeleton;Systemic lupus erythematosus;Arrhythmogenic right ventricular cardiomyopathy (ARVC);
功能： function:F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.,polymorphism:About 18% of the world population lack a functional ACTN3 due to a stop codon polymorphism at position 577. The absence of a functional ACTN3 expression is not correlated with a disease state.,sequence caution:According to the human genome assembly there is a stop codon in position 577 which is only found in 18% of the world population.,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.,subunit:Homodimer; antiparallel. Also forms heterodimers with ACTN2. Interacts with MYOZ1.,tissue specificity:Expressed only in a subset of type 2 skeletal muscle fibers.,
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