FCSK (Fucose Kinase)
Gene encoding fucose kinase, involved in L-fucose metabolism and potential roles in glycosylation disorders and cancer.
Gene Information Card
| Symbol | FCSK |
|---|---|
| Full Name | Fucose Kinase |
| Gene Type | protein-coding |
| Chromosomal Location | 16q22.1 |
| NCBI Gene ID | 55750 ncbi.nlm.nih.gov/gene/55750 |
| Ensembl ID | ENSG00000103175 |
| UniProt ID | Q9H2B4 |
| OMIM ID | 608671 |
| HGNC ID | 28996 |
| Aliases | FUK, Fucokinase, L-fucose kinase |
Description
FCSK encodes fucose kinase, the enzyme that catalyzes the first step in the L-fucose salvage pathway: phosphorylation of L-fucose to L-fucose-1-phosphate. This reaction is essential for the synthesis of GDP-L-fucose, a key substrate for fucosylation of glycoproteins and glycolipids. FCSK is ubiquitously expressed and its deficiency is associated with a congenital disorder of glycosylation (FCSK-CDG).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital disorder of glycosylation (FCSK-CDG) | Loss-of-function mutations in FCSK impair L-fucose phosphorylation, leading to reduced GDP-fucose and defective fucosylation of glycoconjugates, causing multisystem disease. | PMID: 29499166; ClinVar |
| Colorectal cancer | Altered FCSK expression may affect fucosylation patterns on cell surface glycoproteins, influencing tumor progression and metastasis. | PMID: 25642766; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 8.2 | Medium |
| Kidney | 6.5 | Medium |
| Small intestine | 5.1 | Medium |
| Pancreas | 4.8 | Low |
| Brain | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 7.9 | Hepatocellular carcinoma cell line |
| HEK293 | 6.3 | Embryonic kidney cells |
| Caco-2 | 5.5 | Colorectal adenocarcinoma cells |
| K562 | 3.1 | Chronic myeloid leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.742C>T (p.Arg248*) | Nonsense | Rare | Loss of function; associated with FCSK-CDG |
| c.1015G>A (p.Gly339Arg) | Missense | Rare | Likely loss of function; reported in FCSK-CDG |
| c.1366C>T (p.Arg456Cys) | Missense | Rare | Uncertain significance; ClinVar |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations (e.g., p.Arg248*, p.Gly339Arg) reduce or abolish fucose kinase activity, leading to FCSK-CDG.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • cytoplasm (GO:0005737) | • ATP binding (GO:0005524) |
| • phosphotransferase activity (GO:0016773) | • L-fucose metabolic process (GO:0042355) |
| • fucose metabolic process (GO:0006004) |
Pathways
• L-fucose degradation I (Reactome: R-HSA-9033808)
• GDP-L-fucose biosynthesis (Reactome: R-HSA-9033807)
Protein Summary
Fucose kinase is a 618-amino acid cytoplasmic enzyme that phosphorylates L-fucose using ATP. It is the rate-limiting step in the salvage pathway for GDP-L-fucose production. The protein contains a conserved kinase domain and is expressed in multiple tissues. Defects in FCSK cause a rare congenital disorder of glycosylation characterized by developmental delay, hypotonia, and abnormal fucosylation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FCSK Knockout HEK293 Cell Line | EDJ-KQ11602 | Human | 197258 | Details Get a Quote |
| FCSK Knockout A-549 Cell Line | EDJ-KQ39940 | Human | 197258 | Details Get a Quote |
| FCSK Knockout HCT 116 Cell Line | EDJ-KQ39941 | Human | 197258 | Details Get a Quote |
| FCSK Knockout HeLa Cell Line | EDJ-KQ39942 | Human | 197258 | Details Get a Quote |
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