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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| MTMR14-20-RE | 20 (40 μL) | 200 μL |  |
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| MTMR14-20-OR | 20 (40 μL) | 200 μL |  |
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| MTMR14-20-GO | 20 (40 μL) | 200 μL |  |
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| MTMR14-20-GR | 20 (40 μL) | 200 μL |  |
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| MTMR14-20-AQ | 20 (40 μL) | 200 μL |  |
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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.[provided by RefSeq, Apr 2010]
Gene Symbol : MTMR14
Gene Name : Myotubularin related protein 14
Chromosome : CHR 3: 964,943,2-970,239,3
Locus : 3p25.3
Alt. Genes : PREB
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