Description
Key facts
Species or organism:Human,
Form:LiquidSee storage information
Product details:
ab94167 is a 293T cell transfected lysate in which Human MTM1 has been transiently over-expressed using a pCMV-MTM1 plasmid. The lysate is provided in 1X Sample Buffer.
Properties and Storage Information:
Shipped at conditions-Dry Ice, Appropriate short-term storage conditions--20°C, Appropriate long-term storage conditions--20°C, Aliquoting information-Upon delivery aliquot, Storage information-Avoid freeze / thaw cycle
Supplementary Information:
This supplementary information is collated from multiple sources and compiled automatically.
MTM1 also known as myotubularin is a phosphatase important for lipid metabolism specifically phosphoinositide signaling. The protein has a mass of approximately 69 kDa. MTM1 is expressed in skeletal muscle tissues and plays an important mechanical role in muscle maintenance. Its expression ensures proper muscle function and growth by regulating the levels of phosphatidylinositol 3-phosphate (PI3P) within cellular membranes.
Biological function summary
MTM1 is important for muscle cell maintenance and development. The protein is a part of a larger complex that includes other myotubularin-related proteins providing a coordinated regulation of phosphoinositide metabolism. MTM1 ensures the stability and elongation of muscle fibers contributing to normal muscle physiology by facilitating cellular signaling pathways that are necessary for muscle integrity and survival.
Pathways
MTM1 plays an essential role in the phosphoinositide signaling and PI3K/AKT pathways. These pathways are significant for cell growth differentiation and survival. MTM1 interacts with proteins pivotal to these pathways such as AKT and mTOR to regulate cellular processes linked with energy balance and response to growth signals. Without proper MTM1 function these pathways may become dysregulated leading to muscle-related issues.
MTM1 mutations directly associate with X-linked myotubular myopathy a severe muscle disorder. The failure in MTM1 function causes muscle weakness and structural abnormalities due to impaired phosphoinositide metabolism. This myopathy highlights MTM1's interaction with dynamin 2 another protein altered in related muscle diseases which further demonstrates MTM1’s critical role in maintaining muscle function and health.
