Human recombinant MTM1 protein, AF

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.

Product Specifications

Synonyms

Phosphatidylinositol-3,5-bisphosphate 3-phosphatase, Phosphatidylinositol-3-phosphate phosphatase, CG2

Gene Name

MTM1

UniProt

Q13496

Reactivity

Human

Tag

His Tag (N-term)

Source

Escherichia coli

Applications

Cell Culture

Purification

>95% as determined by SDS-PAGE.

Endotoxin

<1 EU per 1 μg of the protein by the LAL method.

Bioactivity

Testing in process

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.

Reconstitution

Centrifuge at 3000 rpm for 5 mins before opening. It is recommended to reconstitute the lyophilized protein in sterile H2O to a concentration not less than 100 μg/mL and incubate the stock solution at room temperature for at least 20 mins to ensure sufficient re-dissolved. Do Not Vortex! Vigorous shaking may impair the biological activity of the protein.

Molecular Weight

The protein has a calculated MW of 70.75 kDa. The protein migrates as 60 kDa uder reducing condition (SDS-PAGE analysis) .

Storage Conditions

Lyophilized protein should be stored at -20°C for 1 year. Upon reconstitution, store at 2°C to 8°C for up to 1 week. Further dilute in a buffer containing a carrier protein or stabilizer (e.g. 0.1% BSA, 10%FBS, 5%HSA or 5% trehalose solution), protein aliquots should be stored at -20°C or -80°C for 3-6 months. Avoid repeated freeze/thaw cycles.