POFUT1 Chromosome 20
Protein O-fucosyltransferase 1
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What This Gene Does
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]
Gene Info
Gene Group
"Fucosyltransferases|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
20q11.21
Ensembl
ENSG00000101346
Associated Conditions (4)
Dowling-Degos disease 2
Inborn genetic diseases
POFUT1-related disorder
Squamous cell lung carcinoma
Key Variants
RS148668069
Conflicting classifications of pathogenicity
Dowling-Degos disease 2, Inborn genetic diseases, Dowling-Degos disease 2
Health Risk
RS1569152303
Pathogenic
Dowling-Degos disease 2, Dowling-Degos disease 2
Health Risk
RS2122601454
Pathogenic
Dowling-Degos disease 2, Dowling-Degos disease 2
Health Risk
RS2516174223
Pathogenic
Dowling-Degos disease 2, Dowling-Degos disease 2
Health Risk
RS369818845
Pathogenic
POFUT1-related disorder, POFUT1-related disorder
Health Risk
RS398123038
Pathogenic
Dowling-Degos disease 2, Squamous cell lung carcinoma, Dowling-Degos disease 2
Health Risk
RS886041033
Pathogenic
Dowling-Degos disease 2, Dowling-Degos disease 2
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS148668069 | Health Risk | Conflicting classifications of pathogenicity | Dowling-Degos disease 2, Inborn genetic diseases, Dowling-Degos disease 2 |
| RS1569152303 | Health Risk | Pathogenic | Dowling-Degos disease 2, Dowling-Degos disease 2 |
| RS2122601454 | Health Risk | Pathogenic | Dowling-Degos disease 2, Dowling-Degos disease 2 |
| RS2516174223 | Health Risk | Pathogenic | Dowling-Degos disease 2, Dowling-Degos disease 2 |
| RS369818845 | Health Risk | Pathogenic | POFUT1-related disorder, POFUT1-related disorder |
| RS398123038 | Health Risk | Pathogenic | Dowling-Degos disease 2, Squamous cell lung carcinoma, Dowling-Degos disease 2 |
| RS886041033 | Health Risk | Pathogenic | Dowling-Degos disease 2, Dowling-Degos disease 2 |