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MTMR14 is 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.
Gene Name: | myotubularin related protein 14 |
Family/Subfamily: | Protein Phosphatase , Protein Phosphatase - Provisional |
Synonyms: | MTMR14, C3orf29, NS5ATP4ABP1, HEDTP, HJumpy, Jumpy |
Target Sequences: | NM_022485 NP_071930.2 Q8NCE2 |
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