Target：Myotubularin

Fields：Inositol phosphate metabolism;Metabolic pathways;Phosphatidylinositol signaling system

Gene Name：MTM1

Protein Name：Myotubularin

Human Gene Id：4534

Human Swiss Prot No：Q13496

Mouse Gene Id：17772

Mouse Swiss Prot No：Q9Z2C5

Immunogen：The antiserum was produced against synthesized peptide derived from human Myotubularin. AA range:241-290

Specificity：Myotubularin Polyclonal Antibody detects endogenous levels of Myotubularin protein.

Formulation：Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.

Source：Polyclonal, Rabbit,IgG

Dilution：WB 1:500-2000;IHC 1:50-300

Purification：The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.

Concentration：1 mg/ml

Storage Stability：-15°C to -25°C/1 year(Do not lower than -25°C)

Other Name：MTM1;CG2;Myotubularin

Observed Band(KD)：70kD

Background： 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. [provided by RefSeq, Jul 2008],

Function：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 r

Subcellular Location：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). .

Expression： Epithelium,Platelet,Testis,