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| Cat.No | ACP18389 | Target Name | MTM1 |
|---|---|---|---|
| Target Synonyms | AF073996; CG2; CNM; KIAA4176; mKIAA4176; Mtm; Mtm1; MTM1_HUMAN; MTMX; Myotubular myopathy 1; Myotubularin; XLMTM | Form | Lyophilized powder |
| Expression System | Custom Production. Please inquire and provide the desire expression system. | Expression Range | 1-603 |
| Protein Length | Full length protein | Purity | >85% (SDS-PAGE) |
| Storage Buffer | 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, Liquid form: default storage buffer is Tris/PBS-based buffer, pH 8.0. |
| Target Species | Human | Uniprot ID | Q13496 |
|---|
Uniprot Id
Q13496
Target Species
Human
Target Name
MTM1
Target Full Name
Myotubularin
Target 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. In skeletal muscles, stabilizes MTMR12 protein levels.
Target Involvement
Myopathy, centronuclear, X-linked (CNMX)
Target Subcellular Location
Cytoplasm. Cell membrane; Peripheral membrane protein. Cell projection, filopodium. Cell projection, ruffle. Late endosome. Cytoplasm, myofibril, sarcomere.
Target Protein Families
Protein-tyrosine phosphatase family, Non-receptor class myotubularin subfamily
Target Research Area
Cell Biology
Target Synonyms
AF073996; CG2; CNM; KIAA4176; mKIAA4176; Mtm; Mtm1; MTM1_HUMAN; MTMX; Myotubular myopathy 1; Myotubularin; XLMTM
Target Background
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.
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