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Myotubularin 1 (MTM1)

Target: MTM1
Molecular classification: Enzyme, Dual-specificity lipid/protein phosphatase

Overview

The human *MTM1* gene encodes the enzyme myotubularin—a dual-specificity lipid/protein phosphatase critical for normal skeletal muscle development and function. Loss-of-function or missense mutations disrupt its activity on key signaling lipids within cell membranes, resulting in impaired intracellular transport processes that underlie the clinical features of X-linked myotubular myopathy. This gene is located on chromosome Xq28; pathogenic variants are inherited in an X-linked recessive manner.

Other names: CNMMTMXXLMTMMyotubularin 1MTM1_HUMAN

Biological functions

Muscle cell differentiationMuscle cell maintenanceVesicle traffickingRegulation of desmin intermediate filament assemblyMitochondrial morphology/positioning

Disease associations

X-linked myotubular myopathy

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