mtm - myotubularin

Enables phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity and phosphatidylinositol-3-phosphate phosphatase activity. Involved in several processes, including cortical actin cytoskeleton organization; endocytic recycling; and regulation of endocytic recycling. Located in cell cortex and membrane. Is expressed in adult head; embryonic hindgut; and organism. Used to study centronuclear myopathy X-linked and myopathy. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 4B1 and congenital structural myopathy. Orthologous to human MTM1 (myotubularin 1); MTMR1 (myotubularin related protein 1); and MTMR2 (myotubularin related protein 2). [provided by Alliance of Genome Resources, Dec 2024]

NCBI Orthologs

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