This gene encodes a protein with both O-glucosyltransferase and O-xylosyltransferase activity which localizes to the lumen of the endoplasmic reticulum. This protein has a carboxy-terminal KTEL motif which is predicted to function as an endoplasmic reticulum retention signal. This gene is an essential regulator of Notch signalling and likely plays a role in cell fate and tissue formation during development. It may also play a role in the pathogenesis of leukemia. Mutations in this gene have been associated with the autosomal dominant genodermatosis Dowling-Degos disease 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| POGLUT1-20-RE | 20 (40 μL) | 200 μL |  |
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| POGLUT1-20-OR | 20 (40 μL) | 200 μL |  |
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| POGLUT1-20-GO | 20 (40 μL) | 200 μL |  |
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| POGLUT1-20-GR | 20 (40 μL) | 200 μL |  |
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| POGLUT1-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene encodes a protein with both O-glucosyltransferase and O-xylosyltransferase activity which localizes to the lumen of the endoplasmic reticulum. This protein has a carboxy-terminal KTEL motif which is predicted to function as an endoplasmic reticulum retention signal. This gene is an essential regulator of Notch signalling and likely plays a role in cell fate and tissue formation during development. It may also play a role in the pathogenesis of leukemia. Mutations in this gene have been associated with the autosomal dominant genodermatosis Dowling-Degos disease 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
Gene Symbol : POGLUT1
Gene Name : Protein O-glucosyltransferase 1
Chromosome : CHR 3: 119,468,937-119,494,707
Locus : 3q13.33
Alt. Genes : TRAP1
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