St. Jude Reference #SJ-99-0010
Ozz is a muscle-specific adapter protein of an E3 ligase complex that ubiquitinates ß-catenin and may target ß-catenin and MyHCemb for degradation during myogenesis. Deregulation of Ozz activity in developing and/or differentiating muscle fibers may influence cellular homeostasis and in turn result in heart or skeletal muscle myopathies. The Ozz gene overlaps with the transcriptional unit of the protective protein/cathepsin A (PPCA) gene, which is mutated in the human lysosomal disease galactosialidosis. It is possible that a mutation in the PPCA gene may affect expression of Ozz.
Further research has pointed to Ozz-E3 as the ubiquitin ligase complex that interacts with and regulates myosin within its fully assembled cytoskeletal structure, and suggests the Ozz-E3 ligase regulates Alix/AIP1, a multifunctional adaptor protein at sites where the actin cytoskeleton undergoes remodeling.
Muscle, ubiquitin, Ozz-E3, Alix/AIP1, protein
Granted Patents or Published Applications
U.S. Patent Nos. 7,074,908 and 7,425,615
Related Scientific References
Bongiovanni, A., et. al., “Alix protein is substrate of Ozz-E3 ligase and modulates actin remodeling in skeletal muscle.” J Biol Chem. April 6, 2012; Epub Feb 13, 2012;
Campos, Y., et. al., “Ozz-E3 ubiquitin ligase targets sarcomeric embryonic myosin heavy chain during muscle development.” PLoS One. 2010 Mar 24;5(3):e9866. doi: 10.1371/journal.pone.0009866;
Tommaso Nastasi, et. al., "Ozz-E3, A Muscle-Specific Ubiquitin Ligase, Regulates β-Catenin Degradation during Myogenesis" Developmental Cell, Vol 6, 269-282, February 2004.
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