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Myotubularin Antibodies
AND MTM1 ELISA kits, Myotubularin Proteins
Many biological assays use antibodies to detect Myotubularin, such as Western Blot (WB), ELISA, Flow Cytometry, Immunocytochemistry (IHC). These antibodies can be polyclonal or monoclonal, and react with Myotubularin in Human, Mouse, Rat, and many other animal samples. Boster Bio use mainly mouse and rabbit to develop Myotubularin antibodies...
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MTM1 Overview
Facts about Myotubularin.
Myotubularin (MTM1)
Lipid phosphatase that 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 in the late endosome to the lysosome (PubMed:14722070). Plays a role in vacuolar formation and morphology.
Gene Information
| Human | |
|---|---|
| Gene Name: | MTM1 |
| Uniprot: | Q13496 |
| Entrez: | 4534 |
Family
| Belongs to: |
|---|
| protein-tyrosine phosphatase family |
Alternative Names
CG2; CNM; EC 3.1.3.48; MTMX; myotubular myopathy 1; myotubularin 1; myotubularin; XLMTM
Molecular Weight
Mass (kDA):
69.932 kDA
Genomic Context
| Human | |
|---|---|
| Location: | Xq28 |
| Sequence: | X; NC_000023.11 (150562658..150673143) |
Subcellular Localizations
Cytoplasm. Cell membrane; Peripheral membrane protein. Cell projection, filopodium. Cell projection, ruffle. Late endosome. Cytoplasm, myofibril, sarcomere. 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).
Diseases
- Myopathy
- Congenital Structural Myopathy
- Weakness
- Muscle Hypotonia
- Muscle Weakness
- Congenital Myopathy (disorder)
- Genetic Diseases, X-linked
- Generalized Muscle Weakness
- Charcot-marie-tooth Disease
- Congenital Disorders
- Neuromuscular Diseases
Interacting Proteins
- BIN1
- DES
- Des
- EXOC4
- MTMR12
- Pip4k2a
Pathways
- Localization
- Endocytosis
- Autophagy
- Translation
- Cell Proliferation
- Pathogenesis
- Transport
- Muscle Contraction
- Regulation Of Autophagy
- Cell Differentiation
- Muscle Atrophy
- Methylation
- Rna Interference
PTMs
- Dephosphorylation
Research Areas
- Protein Phosphatase
For details, visit:
bosterbio.com/bosterbio-gene-info-cards/MTM1
bosterbio.com/bosterbio-gene-info-cards/MTM1
References
PMID: 8640223 by Laporte J., et al. A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast.
PMID: 9781038 by Laporte J., et al. Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy.