This gene is a member of the myotubularin family of phosphoinositide lipid phosphatases. The encoded protein possesses phosphatase activity towards phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-bisphosphate. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4B, an autosomal recessive demyelinating neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| MTMR2-20-RE | 20 (40 μL) | 200 μL |  |
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| MTMR2-20-OR | 20 (40 μL) | 200 μL |  |
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| MTMR2-20-GO | 20 (40 μL) | 200 μL |  |
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| MTMR2-20-GR | 20 (40 μL) | 200 μL |  |
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| MTMR2-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene is a member of the myotubularin family of phosphoinositide lipid phosphatases. The encoded protein possesses phosphatase activity towards phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-bisphosphate. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4B, an autosomal recessive demyelinating neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
Gene Symbol : MTMR2
Gene Name : Myotubularin related protein 2
Chromosome : CHR 11: 959,242,06-958,328,79
Locus : 11q21
Alt. Genes : KIF20A
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