# X-linked myotubular myopathy gene 1

> mammalian protein found in Mus musculus

**Wikidata**: [Q21493985](https://www.wikidata.org/wiki/Q21493985)  
**Source**: https://4ort.xyz/entity/x-linked-myotubular-myopathy-gene-1


## References

1. UniProt
2. [InterPro Release 71.0](http://www.ebi.ac.uk/interpro/protein/Q9Z2C5)
3. Q20641742
4. [GOA](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9Z2C5)
5. [The myotubularin-amphiphysin 2 complex in membrane tubulation and centronuclear myopathies](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9Z2C5)
6. [Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9Z2C5)
7. [The PtdIns3P phosphatase myotubularin is a cytoplasmic protein that also localizes to Rac1-inducible plasma membrane ruffles](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9Z2C5)
8. [AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9Z2C5)
9. [Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin-proteasome pathways](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9Z2C5)
10. [The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9Z2C5)
11. [Site-specific Mtm1 mutagenesis by an AAV-Cre vector reveals that myotubularin is essential in adult muscle](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9Z2C5)
12. ensembl Release 106