4d1e | pdb_00004d1e
From Proteopedia
THE CRYSTAL STRUCTURE OF HUMAN MUSCLE ALPHA-ACTININ-2
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Structural highlights
Disease[ACTN2_HUMAN] 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.[1] Function[ACTN2_HUMAN] F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein. References
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This page was last modified 16:19, 10 December 2014.