Aliases for MTM1 Gene
External Ids for MTM1 Gene
Previous GeneCards Identifiers for MTM1 Gene
This gene encodes a dual-specificity phosphatase that acts on both phosphotyrosine and phosphoserine. It is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy. [provided by RefSeq, Jul 2008]
GeneCards Summary for MTM1 Gene
MTM1 (Myotubularin 1) is a Protein Coding gene. Diseases associated with MTM1 include Myopathy, Centronuclear, X-Linked and Myopathy. Among its related pathways are Inositol phosphate metabolism (KEGG) and PI Metabolism. Gene Ontology (GO) annotations related to this gene include phosphatase activity and phosphatidylinositol binding. An important paralog of this gene is MTMR2.
UniProtKB/Swiss-Prot Summary for MTM1 Gene
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 (PubMed:9537414). Negatively regulates EGFR degradation through regulation of EGFR trafficking from the late endosome to the lysosome (PubMed:14722070). Plays a role in vacuolar formation and morphology. Regulates desmin intermediate filament assembly and architecture (PubMed:21135508). Plays a role in mitochondrial morphology and positioning (PubMed:21135508). Required for skeletal muscle maintenance but not for myogenesis (PubMed:21135508). In skeletal muscles, stabilizes MTMR12 protein levels (PubMed:23818870).