This gene is a member of the myotubularin family. The encoded protein possesses phosphatase activity towards phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-bisphosphate. 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.
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Protein Aliases: Myotubularin-related protein 2; Phosphatidylinositol-3,5-bisphosphate 3-phosphatase; phosphatidylinositol-3-phosphatase; Phosphatidylinositol-3-phosphate phosphatase; phosphoinositide-3-phosphatase
Gene Aliases: CMT4B; CMT4B1; KIAA1073; MTMR2
UniProt ID: (Human) Q13614
Entrez Gene ID: (Human) 8898
Molecular Function: phosphatase