FUOM Gene - Fucose Mutarotase
Comprehensive genomic and functional analysis of the FUOM gene encoding fucose mutarotase, involved in L-fucose metabolism and potential implications in disease.
Gene Information Card
| Symbol | FUOM |
|---|---|
| Full Name | Fucose Mutarotase |
| Gene Type | Protein coding |
| Chromosomal Location | 10q22.1 |
| NCBI Gene ID | 84986 ncbi.nlm.nih.gov/gene/84986 |
| Ensembl ID | ENSG00000165806 |
| UniProt ID | Q96C12 |
| OMIM ID | 617753 |
| HGNC ID | 28470 |
| Aliases | FU, FucM, FUOM_HUMAN |
Description
The FUOM gene encodes fucose mutarotase, an enzyme that catalyzes the interconversion of alpha- and beta-L-fucose, a critical step in L-fucose metabolism. This gene is involved in the fucose salvage pathway and may play roles in glycosylation and cellular signaling. Mutations in FUOM have been associated with metabolic disorders and potential cancer phenotypes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Fucose metabolism disorder | Deficiency in FUOM leads to impaired L-fucose mutarotation, disrupting fucose salvage and glycoprotein fucosylation. | ClinVar, OMIM |
| Colorectal cancer | Altered FUOM expression may affect fucosylation of cell surface glycoproteins, influencing tumor progression. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Small intestine | 6.7 | Low |
| Colon | 5.9 | Low |
| Pancreas | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.1 | Hepatocellular carcinoma cell line |
| HEK 293 | 10.4 | Embryonic kidney cells |
| Caco-2 | 7.8 | Colorectal adenocarcinoma cells |
| MCF7 | 3.2 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.104C>T (p.Thr35Met) | Missense | 0.02% | Reduced enzyme activity |
| c.256G>A (p.Gly86Arg) | Missense | 0.01% | Impaired substrate binding |
Mutation functional classification
Loss of Function (LOF)
Mutations such as p.Met1? and p.Thr35Met lead to reduced or absent fucose mutarotase activity, disrupting L-fucose metabolism.
Gain of Function (GOF)
No gain-of-function mutations reported in FUOM.
Dominant Negative (DN)
No dominant-negative mutations reported in FUOM.
View complete mutation data：
Gene Ontology (GO)
| • isomerase activity (GO:0016853) | • fucose metabolic process (GO:0006004) |
| • cytosol (GO:0005829) | • cytoplasm (GO:0005737) |
Pathways
• L-fucose degradation pathway
• Fucose salvage pathway
Protein Summary
Fucose mutarotase is a 321-amino acid protein that catalyzes the reversible conversion between alpha- and beta-L-fucose. It is localized in the cytoplasm and is essential for the fucose salvage pathway, enabling the reuse of fucose from glycoprotein degradation. The enzyme has a conserved mutarotase domain and is expressed in various tissues, with highest levels in liver and kidney.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FUOM Knockout HEK293 Cell Line | EDJ-KQ13530 | Human | 282969 | Details Get a Quote |
| FUOM Knockout A-549 Cell Line | EDJ-KQ43144 | Human | 282969 | Details Get a Quote |
| FUOM Knockout HCT 116 Cell Line | EDJ-KQ43145 | Human | 282969 | Details Get a Quote |
| FUOM Knockout HeLa Cell Line | EDJ-KQ43146 | Human | 282969 | Details Get a Quote |
