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.
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Protein Aliases: egg-derived tyrosine phosphatase homolog; HCV NS5A-transactivated protein 4 splice variant A-binding protein 1; hJumpy; jumpy; Myotubularin-related protein 14; NS5ATP4ABP1
Gene Aliases: C3orf29; MTMR14; RGD1304842
UniProt ID: (Human) Q8NCE2