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MTMR2 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 for this gene, but the protein products of some of these variants are likely not viable, as they are nonsense-mediated mRNA decay (NMD) candidates.
