| Primary Identifier | IPR030561 | Type | Family |
| Short Name | Myotubularin |
| description | Myotubularin (MTM1) is a lipid phosphatase which dephosphorylates phosphatidylinositol 3-monophosphate (PI3P) and phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2) [, ]. Myotubularin is essential in adult muscle []. MTM1 is involved in sarcoplasmic reticulum (SR) remodelling and promoting SR membrane curvature in skeletal muscle []. It also controls desmin intermediate filament architecture and mitochondrial dynamics in skeletal muscle [], and functions in late endosomal trafficking and vacuolar morphology [].Mutation in MTM1 cause X-linked centronuclear myopathy (XLCNM), a congenital muscle disorder characterised by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles [, ]. |
