protein O-glucosyltransferase 1
The information on this page was automatically extracted from online scientific databases.
From NCBI Gene:
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]
Dual specificity glycosyltransferase. Catalyzes the transfer of glucose and xylose from UDP-glucose and UDP-xylose, respectively, to EGF repeats, such as those found in F7, F9 and NOTCH2, on the consensus sequence C-X-S-X-P-C. Positively regulates Notch signaling without affecting Notch ligand binding.
From NCBI Gene:
- Dowling-degos disease 4
- MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Z
Dowling-Degos disease 4 (DDD4): A form of Dowling-Degos disease, a genodermatosis manifesting with postpubertal reticulate hyperpigmentation that is progressive and disfiguring, and small hyperkeratotic dark brown papules that affect mainly the flexures and great skin folds. Patients usually show no abnormalities of the hair or nails. DDD4 is characterized by prominent involvement of non-flexural skin areas. [MIM:615696]