Predicted to enable intermediate filament binding activity; phosphatase activity; and phosphatidylinositol binding activity. Involved in mitochondrion distribution; mitochondrion organization; and muscle cell cellular homeostasis. Acts upstream of or within negative regulation of catabolic process; negative regulation of intracellular signal transduction; and positive regulation of skeletal muscle tissue growth. Located in I band. Is expressed in embryo and trunk unsegmented mesenchyme. Used to study centronuclear myopathy. Human ortholog(s) of this gene implicated in congenital structural myopathy. Orthologous to human MTM1 (myotubularin 1).
MGI Description
PHENOTYPE: Hemizygotes for targeted null mutations develop a generalized, progressive myopathy beginning around 1 month and leading to death at 6-14 weeks of age. Mutant mice show amyotrophy with accumulation of central nuclei in skeletal muscle fibers. [provided by MGI curators]