FUT6 Gene: Fucosyltransferase 6
A key enzyme in Lewis blood group antigen synthesis and fucosylation biology
Gene Information Card
| Symbol | FUT6 |
|---|---|
| Full Name | Fucosyltransferase 6 (alpha (1,3) fucosyltransferase) |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 2528 ncbi.nlm.nih.gov/gene/2528 |
| Ensembl ID | ENSG00000156414 |
| UniProt ID | P51993 |
| OMIM ID | 136836 |
| HGNC ID | 4017 |
| Aliases | FucT-VI, FCT3A, FT6, Fucosyltransferase 6 |
Description
The FUT6 gene encodes fucosyltransferase 6, a Golgi membrane-bound enzyme that catalyzes the transfer of fucose from GDP-fucose to N-acetyllactosamine-type oligosaccharides, forming alpha-1,3 linkages. This enzyme is critical for the synthesis of Lewis blood group antigens (Le^a, Le^b, Le^x, Le^y) and plays a role in cell adhesion, inflammation, and cancer biology. FUT6 is expressed in liver, kidney, and various epithelial tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lewis blood group phenotype deficiency | Loss-of-function mutations in FUT6 prevent synthesis of Lewis antigens, leading to Le(a-b-) phenotype | ClinVar, OMIM |
| Colorectal cancer | Altered FUT6 expression affects fucosylation of cell surface glycoproteins, influencing tumor progression and metastasis | COSMIC, PubMed |
| Inflammatory bowel disease | Reduced FUT6 activity may alter mucosal glycosylation and immune response | PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Colon | 6.1 | Low |
| Small intestine | 5.4 | Low |
| Pancreas | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| Caco-2 | 7.8 | Colorectal adenocarcinoma cell line |
| HEK 293 | 3.1 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.739G>A (p.Gly247Ser) | Missense | Rare | Reduced enzyme activity; associated with Lewis negative phenotype |
| c.1046C>T (p.Thr349Met) | Missense | Rare | Loss of function; Lewis negative phenotype |
| c.1157C>T (p.Pro386Leu) | Missense | Rare | Decreased fucosyltransferase activity |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Gly247Ser, p.Thr349Met) reduce or abolish enzyme activity, leading to Lewis blood group deficiency.
Gain of Function (GOF)
Not reported in curated databases.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • Golgi apparatus (GO:0005794) | • integral component of membrane (GO:0016021) |
| • fucosyltransferase activity (GO:0008417) | • protein glycosylation (GO:0006486) |
| • carbohydrate metabolic process (GO:0005975) |
Pathways
• Lewis blood group antigen biosynthesis
• Fucosylation of glycoproteins and glycolipids
Protein Summary
Fucosyltransferase 6 (FUT6) is a 359-amino acid type II transmembrane protein localized to the Golgi apparatus. It transfers fucose to acceptor substrates via an alpha-1,3 linkage, synthesizing Lewis antigens (Le^a, Le^b, Le^x, Le^y). The enzyme is essential for proper cell-cell interactions and immune recognition. Mutations in FUT6 are associated with the Lewis-negative blood group phenotype and may influence cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FUT6 Knockout HEK293 Cell Line | EDJ-KQ4645 | Human | 2528 | Details Get a Quote |
| FUT6 Knockout HeLa Cell Line | EDJ-KQ53279 | Human | 2528 | Details Get a Quote |
| FUT6 Knockout A-549 Cell Line | EDJ-KQ61761 | Human | 2528 | Details Get a Quote |
| FUT6 Knockout HCT 116 Cell Line | EDJ-KQ70243 | Human | 2528 | Details Get a Quote |
