FUT8 Chromosome 14
Fucosyltransferase 8
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What This Gene Does
This gene encodes an enzyme belonging to the family of fucosyltransferases. The product of this gene catalyzes the transfer of fucose from GDP-fucose to N-linked type complex glycopeptides. This enzyme is distinct from other fucosyltransferases which catalyze alpha1-2, alpha1-3, and alpha1-4 fucose addition. The expression of this gene may contribute to the malignancy of cancer cells and to their invasive and metastatic capabilities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]
Gene Info
Gene Group
"Fucosyltransferases|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
14q23.3
Ensembl
ENSG00000033170
Associated Conditions (4)
Inborn genetic diseases
FUT8-related disorder
Congenital disorder of glycosylation with defective fucosylation 1
Malignant tumor of urinary bladder
Key Variants
RS143783144
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149328619
Conflicting classifications of pathogenicity
FUT8-related disorder, Congenital disorder of glycosylation with defective fucosylation 1, FUT8-related disorder
Health Risk
RS1225111857
Likely pathogenic
FUT8-related disorder, FUT8-related disorder
Health Risk
RS1885915172
Likely pathogenic
Congenital disorder of glycosylation with defective fucosylation 1, Congenital disorder of glycosylation with defective fucosylation 1
Health Risk
RS371242983
Likely pathogenic
Congenital disorder of glycosylation with defective fucosylation 1, Congenital disorder of glycosylation with defective fucosylation 1
Health Risk
RS1297536872
Pathogenic
Congenital disorder of glycosylation with defective fucosylation 1, Congenital disorder of glycosylation with defective fucosylation 1
Health Risk
RS1334593208
Pathogenic
Congenital disorder of glycosylation with defective fucosylation 1, Congenital disorder of glycosylation with defective fucosylation 1
Health Risk
RS1460811017
Pathogenic
Congenital disorder of glycosylation with defective fucosylation 1, Inborn genetic diseases, Malignant tumor of urinary bladder
Health Risk
RS1555388034
Pathogenic
Congenital disorder of glycosylation with defective fucosylation 1, Congenital disorder of glycosylation with defective fucosylation 1
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143783144 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS149328619 | Health Risk | Conflicting classifications of pathogenicity | FUT8-related disorder, Congenital disorder of glycosylation with defective fucosylation 1, FUT8-related disorder |
| RS1225111857 | Health Risk | Likely pathogenic | FUT8-related disorder, FUT8-related disorder |
| RS1885915172 | Health Risk | Likely pathogenic | Congenital disorder of glycosylation with defective fucosylation 1, Congenital disorder of glycosylation with defective fucosylation 1 |
| RS371242983 | Health Risk | Likely pathogenic | Congenital disorder of glycosylation with defective fucosylation 1, Congenital disorder of glycosylation with defective fucosylation 1 |
| RS1297536872 | Health Risk | Pathogenic | Congenital disorder of glycosylation with defective fucosylation 1, Congenital disorder of glycosylation with defective fucosylation 1 |
| RS1334593208 | Health Risk | Pathogenic | Congenital disorder of glycosylation with defective fucosylation 1, Congenital disorder of glycosylation with defective fucosylation 1 |
| RS1460811017 | Health Risk | Pathogenic | Congenital disorder of glycosylation with defective fucosylation 1, Inborn genetic diseases, Malignant tumor of urinary bladder |
| RS1555388034 | Health Risk | Pathogenic | Congenital disorder of glycosylation with defective fucosylation 1, Congenital disorder of glycosylation with defective fucosylation 1 |