1/100 - 1/500. Antigen retrieval using heat mediated 10mM Citrate buffer or Tris-EDTA buffer (pH 8.0) is recommended.
機能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.
組織特異性Expressed in various tissues, including heart, skeletal muscle, placenta, liver, lung, kidney and pancreas.
関連疾患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.
配列類似性Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.
細胞内局在Cytoplasm. Found in reticular structures and plasma membrane ruffles. Concentrated near the nucleus.