Gene Symbol | POGLUT1 |
Entrez Gene ID | 56983 |
Full Name | protein O-glucosyltransferase 1 |
Synonyms | C3orf9,CLP46,KDELCL1,KTELC1,LGMD2Z,MDS010,MDSRP,Rumi,hCLP46 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Dowling-Degos disease 4, 615696 (3); ?Muscular dystrophy, limb-girdle, type 2Z, 617232 (3) |