MTM1 ist ein Gen, das durch das Symbol MTM1 kodiert wird. Im Allgemeinen auch bezeichnet als: Myotubularin; Phosphatidylinositol-3,5-bisphosphate 3-phosphatase; Phosphatidylinositol-3-phosphate phosphatase; CG2. MTM1 hat eine Masse von 69.93kDa, eine Aminosäurelänge von 603, und ist an Myopathy, centronuclear, X-linked beteiligt.
Wir bieten 6 antikörper gegen MTM1, aufgewachsen in Kaninchen und Ziege, welche geeignet sind für WB, IHC and ELISA mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
Lipid phosphatase which 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 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).
Entrez Zusammenfassung
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.
Rolle bei Krankheiten
Myopathy, centronuclear, X-linked: A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers.
Sequenzähnlichkeiten
Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.
Zellort
Cytoplasm. Cell membrane. 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).
