背景描述 |
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. |
别称 |
Phosphatidylinositol-3,5-bisphosphate 3-phosphatase, Phosphatidylinositol-3-phosphate phosphatase, CG2 |
蛋白编码 |
Q13496 |
分子量 |
The protein has a calculated MW of 70.75 kDa.
The protein migrates as 60 kDa uder reducing condition (SDS-PAGE analysis). |
表达系统 |
Escherichia coli |
纯度 |
>95% as determined by SDS-PAGE analysis. |
生物活性 |
Testing in process |
内毒素检测 |
<1 EU per 1 μg of the protein by the LAL method. |
蛋白序列 |
A DNA sequence encoding Human MTM1 Protein (#Q13496)(Met1-Phe603) was expressed with polyhistidine tag at the N-terminus. |
蛋白标签 |
His Tag (N-term) |
产品形式 |
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. |
产品应用 |
Cell Culture |