This gene encodes a scaffold protein that is a component of the PIKfyve protein kinase complex. This complex is responsible for the synthesis of phosphatidylinositol 3,5-bisphosphate, an important component of cellular membranes, from phosphatidylinositol 3-phosphate. Mice lacking a functional copy of this gene exhibit severe neurodegeneration. Mutations in the human gene have been identified in patients with a childhood onset progressive neurological disorder characterized by impaired movement, dystonia, and striatal abnormalities. [provided by RefSeq, May 2017]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| VAC14-20-RE | 20 (40 μL) | 200 μL |  |
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| VAC14-20-OR | 20 (40 μL) | 200 μL |  |
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| VAC14-20-GO | 20 (40 μL) | 200 μL |  |
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| VAC14-20-GR | 20 (40 μL) | 200 μL |  |
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| VAC14-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene encodes a scaffold protein that is a component of the PIKfyve protein kinase complex. This complex is responsible for the synthesis of phosphatidylinositol 3,5-bisphosphate, an important component of cellular membranes, from phosphatidylinositol 3-phosphate. Mice lacking a functional copy of this gene exhibit severe neurodegeneration. Mutations in the human gene have been identified in patients with a childhood onset progressive neurological disorder characterized by impaired movement, dystonia, and striatal abnormalities. [provided by RefSeq, May 2017]
Gene Symbol : VAC14
Gene Name : Vac14, PIKFYVE complex component
Chromosome : CHR 16: 708,011,68-706,874,38
Locus : 16q22.1-q22.2
Alt. Genes : YAF2
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