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This gene encodes a myotubularin-related protein. The encoded protein is a phosphoinositide phosphatase that specifically dephosphorylates phosphatidylinositol 3,5-biphosphate and phosphatidylinositol 3-phosphate. Mutations in this gene are correlated with autosomal dominant centronuclear myopathy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 18.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
基因别名: fc14d11; wu:fc14d11
Entrez Gene ID: (Zebrafish) 323929