| ncRNA Symbol: | POGLUT1 |
| Full Name: | protein O-glucosyltransferase 1 |
| Category: | mRNA |
| Synonyms: | C3orf9|CLP46|KDELCL1|KTELC1|LGMD2Z|LGMDR21|MDS010|MDSRP|Rumi|hCLP46 |
| Chromosome: | chr3 |
| Strand: | + |
| Coordinate: | | Start Site(bp): | 119468938 | End Site(bp): | 119494708 | |
| Gene Summary: | 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] |
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