| Background |
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. |
| Synonyms |
Phosphatidylinositol-3,5-bisphosphate 3-phosphatase, Phosphatidylinositol-3-phosphate phosphatase, CG2 |
| Uniprot ID |
Q13496 |
| Molecular Weight |
The protein has a calculated MW of 70.75 kDa.
The protein migrates as 60 kDa uder reducing condition (SDS-PAGE analysis). |
| Expression System |
Escherichia coli |
| Purity |
>95% as determined by SDS-PAGE analysis. |
| Activity |
Testing in process |
| Endotoxin Level |
<1 EU per 1 μg of the protein by the LAL method. |
| Protein Sequence |
A DNA sequence encoding Human MTM1 Protein (#Q13496)(Met1-Phe603) was expressed with polyhistidine tag at the N-terminus. |
| Protein Tag |
His Tag (N-term) |
| Form |
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. |
| Application |
Cell Culture |
No references are available
