This locus encodes a type I phosphatidylinositol 4-phosphate 5-kinase. The encoded protein catalyzes phosphorylation of phosphatidylinositol 4-phosphate, producing phosphatidylinositol 4,5-bisphosphate. This enzyme is found at synapses and has been found to play roles in endocytosis and cell migration. Mutations at this locus have been associated with lethal congenital contractural syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Sep 2010]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| PIP5K1C-20-RE | 20 (40 μL) | 200 μL |  |
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| PIP5K1C-20-OR | 20 (40 μL) | 200 μL |  |
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| PIP5K1C-20-GO | 20 (40 μL) | 200 μL |  |
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| PIP5K1C-20-GR | 20 (40 μL) | 200 μL |  |
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| PIP5K1C-20-AQ | 20 (40 μL) | 200 μL |  |
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This locus encodes a type I phosphatidylinositol 4-phosphate 5-kinase. The encoded protein catalyzes phosphorylation of phosphatidylinositol 4-phosphate, producing phosphatidylinositol 4,5-bisphosphate. This enzyme is found at synapses and has been found to play roles in endocytosis and cell migration. Mutations at this locus have been associated with lethal congenital contractural syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Sep 2010]
Gene Symbol : PIP5K1C
Gene Name : Phosphatidylinositol-4-phosphate 5-kinase type 1 gamma
Chromosome : CHR 19: 370,049,1-363,018,0
Locus : 19p13.3
Alt. Genes : TRAP1
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