DISEASES

Disease-gene associations mined from literature

Literature associating MTM1 and inflammatory bowel disease 21

MTM1 [ENSP00000359423]

Myotubularin; Lipid phosphatase which dephosphorylates phosphatidylinositol 3-monophosphate (PI3P) and phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2) (PubMed:11001925, PubMed:10900271, PubMed:12646134, PubMed:14722070). 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 . In skeletal muscles, stabilizes MTMR12 protein levels . ECO:0000269|PubMed:12646134, ECO:0000269|PubMed:14722070, ECO:0000269|PubMed:21135508, ECO:0000269|PubMed:23818870,

Synonyms:  MTM1,  MTM1p,  hMTM1,  A0A024RC06,  C9J2A2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM