The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
WB: Use at a concentration of 1 µg/ml. Detects a band of approximately 90 kDa (predicted molecular weight: 72 kDa).
Not yet tested in other applications.
Optimal dilutions/concentrations should be determined by the end user.
Lipid phosphatase which efficiently dephosphorylates phosphatidylinositol 3-phosphate (PtdIns3P) and PtdIns(3,5)P2; inactive toward PtdIns4P, PtdIns(3,4)P2, PtdIns(4,5)P2 and PtdIns(3,4,5)P3.
Expressed in various tissues, including heart, skeletal muscle, placenta, liver, lung, kidney and pancreas.
Involvement in disease
Defects in MTMR14 may be a cause of centronuclear myopathy autosomal dominant (ADCNM) [MIM:160150]; also known as autosomal dominant myotubular myopathy. 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.
Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.
Cytoplasm. Found in reticular structures and plasma membrane ruffles. Concentrated near the nucleus.