Obscurin
Protein-coding gene in the species Homo sapiens / From Wikipedia, the free encyclopedia
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Obscurin is a protein that in humans is encoded by the OBSCN gene.[5][6][7] Obscurin belongs to the family of giant sarcomeric signaling proteins that includes titin and nebulin. Obscurin is expressed in cardiac and skeletal muscle, and plays a role in the organization of myofibrils during sarcomere assembly. A mutation in the OBSCN gene has been associated with hypertrophic cardiomyopathy and altered obscurin protein properties have been associated with other muscle diseases.
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