FUCA2: Alpha-L-Fucosidase 2
A lysosomal enzyme involved in fucose metabolism and associated with fucosidosis
Gene Information Card
| Symbol | FUCA2 |
|---|---|
| Full Name | Alpha-L-Fucosidase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q24.2 |
| NCBI Gene ID | 2519 ncbi.nlm.nih.gov/gene/2519 |
| Ensembl ID | ENSG00000112210 |
| UniProt ID | Q9BTY2 |
| OMIM ID | 612280 |
| HGNC ID | 4008 |
| Aliases | FUCA2, alpha-L-fucosidase 2, fucosidase, alpha-L- 2, plasma |
Description
The FUCA2 gene encodes alpha-L-fucosidase 2, a lysosomal enzyme that catalyzes the hydrolysis of alpha-L-fucose residues from glycoproteins and glycolipids. This enzyme is essential for the degradation of fucose-containing glycoconjugates. Mutations in FUCA2 can lead to fucosidosis, a rare autosomal recessive lysosomal storage disorder characterized by progressive neurological deterioration, coarse facial features, and skeletal abnormalities.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Fucosidosis | Loss-of-function mutations in FUCA2 lead to deficient alpha-L-fucosidase activity, causing accumulation of fucose-rich substrates in lysosomes. | ClinVar, OMIM |
| Lysosomal storage disease | Deficient enzyme activity results in progressive accumulation of fucosylated glycoconjugates in tissues. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Brain | 8.1 | Medium |
| Lung | 7.3 | Low |
| Heart | 6.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.3 | Hepatocellular carcinoma cell line |
| HEK 293 | 11.0 | Embryonic kidney cells |
| K-562 | 9.5 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.461C>T (p.Pro154Leu) | Missense | Rare | Reduced enzyme activity |
| c.799G>A (p.Gly267Arg) | Missense | Rare | Loss of function |
| c.1A>G (p.Met1Val) | Start loss | Rare | No protein production |
Mutation functional classification
Loss of Function (LOF)
Most FUCA2 mutations result in loss of enzymatic activity, leading to fucosidosis.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative effects described.
View complete mutation data：
Gene Ontology (GO)
| • alpha-L-fucosidase activity | • lysosome |
| • carbohydrate metabolic process | • glycoprotein catabolic process |
Pathways
• Lysosome (KEGG hsa04142)
• Glycosphingolipid biosynthesis - globo and isoglobo series (KEGG hsa00603)
Protein Summary
Alpha-L-fucosidase 2 is a lysosomal hydrolase that removes terminal alpha-L-fucose residues from glycoproteins and glycolipids. The enzyme is synthesized as a precursor and processed to a mature form. Deficiency due to mutations causes fucosidosis, a rare autosomal recessive disorder.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FUCA2 Knockout HEK293 Cell Line | EDJ-KQ2005 | Human | 2519 | Details Get a Quote |
| FUCA2 Knockout A-549 Cell Line | EDJ-KQ22020 | Human | 2519 | Details Get a Quote |
| FUCA2 Knockout HCT 116 Cell Line | EDJ-KQ22021 | Human | 2519 | Details Get a Quote |
| FUCA2 Knockout HeLa Cell Line | EDJ-KQ22022 | Human | 2519 | Details Get a Quote |
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