Official Full Name
myotubularin related protein 2
This gene is a member of the myotubularin family of phosphoinositide lipid phosphatases. 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. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene.
MTMR2; myotubularin related protein 2; CMT4B; myotubularin-related protein 2; KIAA1073; CMT4B1; MTMR2_HUMAN; OTTHUMP00000204445; OTTHUMP00000204446; OTTHUMP00000204447; OTTHUMP00000204448; phosphatidylinositol-3-phosphate phosphatase; phosphatidylinositol-3,5-bisphosphate 3-phosphatase; zgc:153915