Gene Symbol | POFUT1 |
Entrez Gene ID | 23509 |
Full Name | protein O-fucosyltransferase 1 |
Synonyms | DDD2,FUT12,O-FUT,O-Fuc-T,O-FucT-1,OFUCT1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the glycosyltransferase O-Fuc family. This enzyme adds O-fucose through an O-glycosidic linkage to conserved serine or threonine residues in the epidermal growth factor-like repeats of a number of cell surface and secreted proteins. O-fucose glycans are involved in ligand-induced receptor signaling. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Dowling-Degos disease 2, 615327 (3) |