Gaussian 09, RevisionA.
In PLoS ONE, 2008
... POFUT1 (swissprot: locus OFUT1_ CAEEL; accession Q18014; GeneID: C15C7.7),
Dowling-Degos disease co-presenting with Darier disease.
Indianapolis, United States. In Clin Exp Dermatol, Jan 2016
DDD results from mutations in the genes encoding keratin 5 (KRT5), protein O-glucosyltransferase 1 (POGLUT1) or protein O-fucosyltransferase 1 (POFUT1), while DD results from mutations in the ATP2A2 gene.
Novel roles for O-linked glycans in protein folding.
Stony Brook, United States. In Glycoconj J, 2014
Notably, Protein O-fucosyltransferase 1 (Ofut1/Pofut1), a soluble, ER localized enzyme that fucosylates Epidermal Growth Factor-like (EGF) repeats, functions as a chaperone involved in the proper localization of the Notch receptor in certain contexts.
Evolutionary origins of Notch signaling in early development.
New York City, United States. In Cell Cycle, 2006
Thus it is surprising that the removal of maternal and zygotic protein O-fucosyltransferase 1 (Pofut1), an essential component of the canonical Notch signaling pathway, does not affect early embryogenesis in the mouse.