FCSK Chromosome 16
Fucose kinase
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What This Gene Does
The protein encoded by this gene belongs to the GHMP (galacto-, homoserine, mevalonate and phosphomevalonate) kinase family and catalyzes the phosphorylation of L-fucose to form beta-L-fucose 1-phosphate. This enzyme catalyzes the first step in the utilization of free L-fucose in glycoprotein and glycolipid synthesis. L-fucose may be important in mediating a number of cell-cell interactions such as blood group antigen recognition, inflammation, and metastatis. While several transcript variants may exist for this gene, the full-length nature of only one has been described to date. [provided by RefSeq, Jul 2008]
Associated Conditions (6)
Congenital disorder of glycosylation with defective fucosylation 2
FCSK-related disorder
Lymphoma
Malignant tumor of esophagus
Congenital disorder of glycosylation with defective fucosylation
Familial prostate cancer
Key Variants
RS113870721
Conflicting classifications of pathogenicity
Congenital disorder of glycosylation with defective fucosylation 2, Congenital disorder of glycosylation with defective fucosylation 2
Health Risk
RS17884050
Conflicting classifications of pathogenicity
FCSK-related disorder, FCSK-related disorder
Health Risk
RS17886171
Conflicting classifications of pathogenicity
FCSK-related disorder, FCSK-related disorder
Health Risk
RS180673806
Conflicting classifications of pathogenicity
Health Risk
RS199971372
Conflicting classifications of pathogenicity
Health Risk
RS200044033
Conflicting classifications of pathogenicity
FCSK-related disorder, FCSK-related disorder
Health Risk
RS200371638
Conflicting classifications of pathogenicity
Health Risk
RS200717651
Conflicting classifications of pathogenicity
Health Risk
RS201291016
Conflicting classifications of pathogenicity
Congenital disorder of glycosylation with defective fucosylation 2, Lymphoma, Malignant tumor of esophagus
Health Risk
RS201801842
Conflicting classifications of pathogenicity
Health Risk
RS368736266
Conflicting classifications of pathogenicity
FCSK-related disorder, FCSK-related disorder
Health Risk
RS371789974
Conflicting classifications of pathogenicity
Health Risk
All Variants (22)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113870721 | Health Risk | Conflicting classifications of pathogenicity | Congenital disorder of glycosylation with defective fucosylation 2, Congenital disorder of glycosylation with defective fucosylation 2 |
| RS17884050 | Health Risk | Conflicting classifications of pathogenicity | FCSK-related disorder, FCSK-related disorder |
| RS17886171 | Health Risk | Conflicting classifications of pathogenicity | FCSK-related disorder, FCSK-related disorder |
| RS180673806 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199971372 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200044033 | Health Risk | Conflicting classifications of pathogenicity | FCSK-related disorder, FCSK-related disorder |
| RS200371638 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200717651 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201291016 | Health Risk | Conflicting classifications of pathogenicity | Congenital disorder of glycosylation with defective fucosylation 2, Lymphoma, Malignant tumor of esophagus |
| RS201801842 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS368736266 | Health Risk | Conflicting classifications of pathogenicity | FCSK-related disorder, FCSK-related disorder |
| RS371789974 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS371988447 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS373907136 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS374640774 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS375737602 | Health Risk | Conflicting classifications of pathogenicity | Congenital disorder of glycosylation with defective fucosylation, Congenital disorder of glycosylation with defective fucosylation 2, Congenital disorder of glycosylation with defective fucosylation |
| RS562205568 | Health Risk | Conflicting classifications of pathogenicity | Congenital disorder of glycosylation with defective fucosylation 2, Familial prostate cancer, Congenital disorder of glycosylation with defective fucosylation 2 |
| RS755169246 | Health Risk | Conflicting classifications of pathogenicity | Congenital disorder of glycosylation with defective fucosylation 2, Congenital disorder of glycosylation with defective fucosylation 2 |
| RS761231496 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS781367500 | Health Risk | Conflicting classifications of pathogenicity | Congenital disorder of glycosylation with defective fucosylation 2, Congenital disorder of glycosylation with defective fucosylation 2 |
| RS1336799362 | Health Risk | Likely pathogenic | Congenital disorder of glycosylation with defective fucosylation 2, Congenital disorder of glycosylation with defective fucosylation 2 |
| RS772518056 | Health Risk | Pathogenic/Likely pathogenic | Congenital disorder of glycosylation with defective fucosylation 2, Congenital disorder of glycosylation with defective fucosylation 2 |