Myotubularin Related Protein 2 (MTMR2)

Myotubularin-related protein 2 is a member of the myotubularin family and encodes a putative tyrosine phosphatase. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4B, an autosomal recessive demyelinating neuropathy. Multiple alternatively spliced transcript variants have been found, but the biological validity of some variants has not been determined.

In contrast, MTMR2 was detected in the nucleus of Schwann cells and motor neurons, but not in the nucleus of sensory neurons. NFL interacted with MTMR2 in yeast 2-hybrid screenings using both fetal brain and peripheral nerve libraries and was found to interact with MTMR2 in both Schwann cells and neurons.