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MTM1 Antibody (C-term)
Purified Rabbit Polyclonal Antibody (Pab)
- SPECIFICATION
- CITATIONS: 1
- PROTOCOLS
- BACKGROUND
Application 
| WB, E |
|---|---|
| Primary Accession | Q13496 |
| Reactivity | Human, Mouse |
| Host | Rabbit |
| Clonality | Polyclonal |
| Isotype | Rabbit IgG |
| Calculated MW | 69932 Da |
| Antigen Region | 566-594 aa |
| Gene ID | 4534 |
|---|---|
| Other Names | Myotubularin, Phosphatidylinositol-3, 5-bisphosphate 3-phosphatase, Phosphatidylinositol-3-phosphate phosphatase, MTM1, CG2 |
| Target/Specificity | This MTM1 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 566-594 amino acids from the C-terminal region of human MTM1. |
| Dilution | WB~~1:2000 E~~Use at an assay dependent concentration. |
| Format | Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide. This antibody is prepared by Saturated Ammonium Sulfate (SAS) precipitation followed by dialysis against PBS. |
| Storage | Maintain refrigerated at 2-8°C for up to 2 weeks. For long term storage store at -20°C in small aliquots to prevent freeze-thaw cycles. |
| Precautions | MTM1 Antibody (C-term) is for research use only and not for use in diagnostic or therapeutic procedures. |
| Name | MTM1 (HGNC:7448) |
|---|---|
| Synonyms | CG2 |
| Function | Lipid phosphatase which dephosphorylates phosphatidylinositol 3-monophosphate (PI3P) and phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2) (PubMed:10900271, PubMed:11001925, 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). |
| Cellular Location | Cytoplasm. Cell membrane; Peripheral membrane protein. Cell projection, filopodium. Cell projection, ruffle. Late endosome. Cytoplasm, myofibril, sarcomere {ECO:0000250|UniProtKB:Q9Z2C5}. Note=Localizes as a dense cytoplasmic network (PubMed:11001925). Also localizes to the plasma membrane, including plasma membrane extensions such as filopodia and ruffles (PubMed:12118066). Predominantly located in the cytoplasm following interaction with MTMR12 (PubMed:12847286). Recruited to the late endosome following EGF stimulation (PubMed:14722070). In skeletal muscles, co-localizes with MTMR12 in the sarcomere (By similarity) {ECO:0000250|UniProtKB:Q9Z2C5, ECO:0000269|PubMed:11001925, ECO:0000269|PubMed:12118066, ECO:0000269|PubMed:12847286, ECO:0000269|PubMed:14722070} |
Provided below are standard protocols that you may find useful for product applications.
Background
MTM1 is a member of a protein family that encodes tyrosine phosphatases. Myotubularin is required for muscle cell differentiation and mutations in MTM1 have been identified as being responsible for X-linked myotubular myopathy. MTM1 is a potent phosphatidylinositol 3-phosphate phosphatase (PI(3)P). Mutations in the MTM1 gene that cause human myotubular myopathy dramatically reduce the ability of the phosphatase to dephosphorylate PI(3)P. The findings provided evidence that myotubularin exerts its effects during myogenesis by regulating the cellular levels of the inositol lipid PI(3)P.
References
Nandurkar, H.H., et al., Proc. Natl. Acad. Sci. U.S.A. 100(15):8660-8665 (2003).
Biancalana, V., et al., Hum. Genet. 112(2):135-142 (2003).
Wishart, M.J., et al., Trends Cell Biol. 12(12):579-585 (2002).
Herman, G.E., et al., Hum. Mutat. 19(2):114-121 (2002).
Sutton, I.J., et al., Neurology 57(5):900-902 (2001).
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