DISEASES

Disease-gene associations mined from literature

Literature associating MTM1 and neuromuscular disease

MTM1 [ENSP00000359423]

Phosphatidylinositol-3,5-bisphosphate 3-phosphatase; Lipid phosphatase which dephosphorylates phosphatidylinositol 3-monophosphate (PI3P) and phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2). Has also been shown to dephosphorylate phosphotyrosine- and phosphoserine- containing peptides. Negatively regulates EGFR degradation through regulation of EGFR trafficking from the late endosome to the lysosome. Plays a role in vacuolar formation and morphology. Regulates desmin intermediate filament assembly and architecture. Plays a role in mitochondrial morphology and positioning. Required for skeletal muscle maintenance but not for myogenesis; Myotubularins

Synonyms:  MTM1,  MTM1p,  hMTM1,  A0A024RC06,  B7Z499 ...

Linkouts:  STRING  Pharos  UniProt  OMIM