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mtmr14

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Official Full Name
myotubularin related protein 14
Background
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.[provided by RefSeq, Apr 2010]
Synonyms
MTMR14; myotubularin related protein 14; C3orf29; myotubularin-related protein 14; jumpy; NS5ATP4ABP1; egg-derived tyrosine phosphatase homolog; HCV NS5A-transactivated protein 4 splice variant A-binding protein 1; C3orf29, chromosome 3 open reading frame 29; egg derived tyrosine phosphatase homolog (Drosophila); FLJ22405; FLJ90311; hEDTP; hJumpy; FLJ11546; FLJ46453

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