Anti-MTMR2 antibody

Supplementary info

This supplementary information is collated from multiple sources and compiled automatically.

Activity summary

MTMR2 also known as Myotubularin Related Protein 2 acts as a phosphatidylinositol 3-phosphatase with a molecular weight of approximately 72 kDa. It belongs to the myotubularin family and is widely expressed in several tissues including peripheral nerves and the brain. This protein plays an important role in the regulation of phosphatidylinositol signaling pathways involving dephosphorylation processes essential for cellular homeostasis.

Biological function summary

MTMR2 facilitates the regulation of membrane trafficking and endosomal processing by controlling phosphoinositide levels. It operates as part of larger protein complexes interacting with other members of the myotubularin family. This collaboration is important for maintaining cellular dynamics and integrity influencing processes such as cell growth and cytoskeletal organization. These actions are necessary for proper nerve function and development.

Pathways

MTMR2 is mainly involved in phosphatidylinositol signaling and endocytic pathways. This protein interacts closely with PI3K influencing the PI3K-Akt signaling pathway critical for cell survival and proliferation. Connections also occur with proteins such as MTMR5 which facilitate further regulatory controls. These pathways highlight the role of MTMR2 in cellular signal transduction and its influence on cell morphology.

Associated diseases and disorders

MTMR2 mutations are associated with Charcot-Marie-Tooth disease type 4B1 a peripheral neuropathy characterized by demyelination and muscle weakness. This connection involves an alteration in the pathway regulating phosphoinositide metabolism impacting proper nerve function. Additionally MTMR2 shows interaction with MTMR13 implicating a combined role in the pathogenesis of this disorder. Another disorder linked to MTMR2 dysfunction is myotubular myopathy which affects muscle strength and coordination. This further exemplifies the importance of MTMR2 in maintaining normal physiological conditions.