Myotubularin is a protein that plays a crucial role in cellular processes and is primarily associated with a rare genetic disorder called myotubular myopathy (MTM). This disorder primarily affects skeletal muscles and is characterized by severe muscle weakness and impaired motor function. Myotubularin is an enzyme that regulates the levels of a lipid molecule called phosphatidylinositol 3-phosphate (PI3P) within cells. PI3P is involved in various cellular functions, including membrane trafficking and signaling pathways. Mutations in the gene encoding myotubularin lead to a deficiency or loss of its enzymatic activity, disrupting PI3P metabolism and causing the development of MTM.
The protein was lyophilized from a 0.2 µm filtered solution containing 1X PBS, pH 7.4. If you have any concerns or special requirements, please confirm with us.
Sequence:
A DNA sequence encoding Human MTM1 Protein (Q13496)(Met1-Phe603) was expressed with polyhistidine tag at the N-terminus.
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