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Mitofilin is a transmembrane protein of the inner mitochondrial membrane and it is associated with a large multimeric protein complex of about 1200 kDa. Mitofilin has critical functions in mitochondrial morphology and mitochondrial fusion and fission, specifically in the formation of tubular cristae and cristae junctions. Abnormal mitochondrial morphology has been implicated in many human diseases such as myopathy, cardiomyopathy, rhabdomyosarcoma and Whartin's tumor.
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