Rabbit polyclonal antibody to Myotubularin (Y290)

Human MTM1, a 603 amino~acid protein, is mutated in myotubular myopathy. The largely related protein hMTMR2 is found mutated in a recessive form of Charcot~Marie~tooth neuropathy. Myotubularin is primarily a lipid phosphatase that acts on hosphatidylinositol 3~monophosphate and is involved in the regulation of the phosphatidylinositol 3~kinase (PI 3~kinase) pathway and membrane trafficking. Wildtype myotubularin can directly dephosphorylate PI 3~P and PI 4~P in vitro. Thus, it decreases PI 3~P levels by down~regulating PI 3~K activity and by facilitating the degradation of PI 3~P.