4ydp
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Crystal structure of N-terminal PDZ domain of ZASP in complex with myotilin C-terminal peptide.
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Structural highlights
DiseaseLDB3_HUMAN Defects in LDB3 are the cause of cardiomyopathy dilated type 1C (CMD1C) [MIM:601493. 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] [2] Defects in LDB3 are the cause of left ventricular non-compaction type 3 (LVNC3) [MIM:601493. Left ventricular non-compaction is characterized by numerous prominent trabeculations and deep intertrabecular recesses in hypertrophied and hypokinetic segments of the left ventricle. Defects in LDB3 are the cause of myopathy myofibrillar type 4 (MFM4) [MIM:609452. A neuromuscular disorder characterized by distal and proximal muscle weakness with signs of cardiomyopathy and neuropathy. FunctionLDB3_HUMAN May function as an adapter in striated muscle to couple protein kinase C-mediated signaling via its LIM domains to the cytoskeleton.[:] See AlsoReferences
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This page was last modified 10:54, 10 January 2024.