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- Table of Contents
Designing a Western blot for Myotubularin? The guide has the expected band size, antibodies backed by real blot images, the controls to run alongside, and protocols taken from published papers.
Open the MTM1 Western Blot GuideFacts about Myotubularin.
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.
| Human | |
|---|---|
| Gene Name: | MTM1 |
| Uniprot: | Q13496 |
| Entrez: | 4534 |

| Belongs to: |
|---|
| protein-tyrosine phosphatase family |

CG2; CNM; EC 3.1.3.48; MTMX; myotubular myopathy 1; myotubularin 1; myotubularin; XLMTM
Mass (kDA):
69.932 kDA

| Human | |
|---|---|
| Location: | Xq28 |
| Sequence: | X; NC_000023.11 (150562658..150673143) |
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).






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.