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POGLUT1 is 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.
Gene Name: | protein O-glucosyltransferase 1 |
Synonyms: | POGLUT1, CAP10-like 46 kDa protein, CLP46, HCLP46, KTELC1, KDELCL1, MDSRP, X 010 protein, C3orf9, CAP10-like protein, 46 kDa, KDELC family like 1, MDS010, Rumi |
Target Sequences: | NM_152305 NP_689518.1 Q8NBL1 |
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