功能： catalytic activity:Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate.,caution:The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.,disease:Defects in MTM1 are the cause of X-linked centronuclear myopathy X-linked (XCNM) [MIM:310400]; also known as X-linked myotubular myopathy (XLMTM) or myotubular myopathy type 1 (MTM1). Centronuclear myopathies are congenital muscle disorders 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.,function:Dual-specificity phosphatase that acts on both phosphotyrosine and phosphoserine. Could be involved in a signal transduction pathway necessary for late myogenesis, although its ubiquitous expression suggests a wider function.,similarity:Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.,similarity:Contains 1 GRAM domain.,similarity:Contains 1 myotubularin phosphatase domain.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： 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). .
功能： catalytic activity:Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate.,caution:The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.,disease:Defects in MTM1 are the cause of X-linked centronuclear myopathy X-linked (XCNM) [MIM:310400]; also known as X-linked myotubular myopathy (XLMTM) or myotubular myopathy type 1 (MTM1). Centronuclear myopathies are congenital muscle disorders 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.,function:Dual-specificity phosphatase that acts on both phosphotyrosine and phosphoserine. Could be involved in a signal transduction pathway necessary for late myogenesis, although its ubiquitous expression suggests a wider function.,similarity:Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.,similarity:Contains 1 GRAM domain.,similarity:Contains 1 myotubularin phosphatase domain.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： 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). .
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