| Primary Identifier | IPR039922 | Type | Family |
| Short Name | POFUT1 |
| description | GDP-fucose protein O-fucosyltransferase 1 (POFUT1) transfers fucose residues to acceptor sites on serine and threonine residues of epidermal growth factor-like repeats of recipient proteins. It is essential for Notch signal transduction in mammals []. Mutations in the POFUT1 gene cause Dowling-Degos disease 2 (DDD2), a type of rare autosomal-dominant genodermatosis characterised by reticular hyperpigmentation and hypopigmentation of the flexures []. The structure of POFUT1 has been determined []. |
