Gene: POFUT1

Alternate names for this Gene: DDD2|FUT12|O-FUT|O-Fuc-T|O-FucT-1|OFUCT1

Gene 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.

Gene is located in Chromosome: 20

Location in Chromosome : 20q11.21

Description of this Gene: protein O-fucosyltransferase 1

Type of Gene: protein-coding

rs35968884 in POFUT1 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs11905172 in POFUT1 gene and Chronic Obstructive Airway Disease PMID 28166215 2017 Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis.