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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Myotubularin-related protein 2; phosphatidylinositol-3,5-bisphosphate 3-phosphatase; Phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR2; phosphatidylinositol-3-phosphatase; Phosphatidylinositol-3-phosphate phosphatase; phosphoinositide-3-phosphatase
基因别名: CMT4B; CMT4B1; KIAA1073; MTMR2
UniProt ID: (Human) Q13614
Entrez Gene ID: (Human) 8898