Protein Domain : GDP-fucose protein O-fucosyltransferase 1 IPR039922

Type  Family
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 [].
Short Name  POFUT1

0 Child Features

0 Gene Families

0 Genes

3 Ontology Annotations

1 Parent Features

0 Publications

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