• Alternative Names :
• Myotubularin (Phosphatidylinositol-3,5-bisphosphate 3-phosphatase) (EC 3.1.3.95) (Phosphatidylinositol-3-phosphate phosphatase) (EC 3.1.3.64), MTM1, CG2

• Categories :
• Primary Antibodies

• Clonality :
• polyclonal

• Description :
• 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.

• Host :
• Rabbit

• Immunogen :
• Recombinant Human Myotubularin protein (484-603AA)

• Involvement In Disease :
• Myopathy, centronuclear, X-linked (CNMX)

• Isotype :
• IgG

• Raised In :
• Rabbit

• Reactivity :
• Human

• Regulatory :
• RUO

• Relevance :
• 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.

• Species :
• Homo Sapiens (Human)

• Subcellular Location :
• Cytoplasm, Cell membrane, Peripheral membrane protein, Cell projection, filopodium, Cell projection, ruffle, Late endosome

• Uniprot :
• Q13496

• Database Links :
• 
  

  HGNC:7448

  OMIM:300415

  KEGG:hsa:4534

  STRING:9606.ENSP00000359423

  UniGene:Hs.655056

• Function :
• 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.

• Pathway :
• Phosphatidylinositol signaling system

• Protein Families :
• Protein-tyrosine phosphatase family, Non-receptor class myotubularin subfamily

• Research Area :
• Signal Transduction

• Buffer :
• PBS with 0.02% sodium azide, 50% glycerol, pH7.3.

• Form :
• Liquid

• Format :
• Liquid

• Purification :
• Antigen Affinity Purified

• Purity :
• Antigen Affinity Purified

• Storage :
• Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.

• Storage Buffer :
• 
  
  PBS with 0.02% sodium azide, 50% glycerol, pH7.3.

• Datasheet :
• 

• ELISA Protocol :

• Immunohistochemistry (IHC) Protocol :