|Other Names||Myotubularin-related protein 14, 313-, HCV NS5A-transactivated protein 4 splice variant A-binding protein 1, NS5ATP4ABP1, hJumpy, MTMR14, C3orf29|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||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.|
|Cellular Location||Cytoplasm. Note=Found in reticular structures and plasma membrane ruffles Concentrated near the nucleus|
|Tissue Location||Expressed in various tissues, including heart, skeletal muscle, placenta, liver, lung, kidney and pancreas|
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Provided below are standard protocols that you may find useful for product applications.
This gene encodes a myotubularin-related protein. Theencoded protein is a phosphoinositide phosphatase that specificallydephosphorylates phosphatidylinositol 3,5-biphosphate andphosphatidylinositol 3-phosphate. Mutations in this gene arecorrelated with autosomal dominant centronuclear myopathy.Alternate splicing results in multiple transcript variants. Apseudogene of this gene is found on chromosome 18.
Gibbs, E.M., et al. Autophagy 6(6):819-820(2010)Rose, J.E., et al. Mol. Med. 16 (7-8), 247-253 (2010) :Vergne, I., et al. EMBO J. 28(15):2244-2258(2009)Tosch, V., et al. Hum. Mol. Genet. 15(21):3098-3106(2006)
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