FUCA1 Gene: Alpha-L-Fucosidase 1 – Function, Deficiency, and Clinical Significance
Comprehensive resource on FUCA1 (Alpha-L-Fucosidase 1), including genomic context, expression, mutations, and associated disorders such as fucosidosis.
Gene Information Card
| Symbol | FUCA1 |
|---|---|
| Full Name | Alpha-L-fucosidase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.11 |
| NCBI Gene ID | 2517 ncbi.nlm.nih.gov/gene/2517 |
| Ensembl ID | ENSG00000179163 |
| UniProt ID | P04066 |
| OMIM ID | 612280 |
| HGNC ID | 4008 |
| Aliases | FUCA, Nbla10230 |
Description
The FUCA1 gene encodes alpha-L-fucosidase 1, a lysosomal enzyme that catalyzes the hydrolytic cleavage of fucose residues from glycoproteins, glycolipids, and oligosaccharides. This enzyme is essential for the degradation of fucose-containing glycoconjugates. Mutations in FUCA1 lead to fucosidosis, a rare autosomal recessive lysosomal storage disease characterized by progressive neurological deterioration, skeletal abnormalities, and angiokeratoma. FUCA1 is widely expressed in tissues, with highest levels in the liver, kidney, and placenta.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Fucosidosis | Loss-of-function mutations in FUCA1 result in deficient alpha-L-fucosidase activity, leading to accumulation of fucose-containing glycolipids and glycoproteins in lysosomes, causing cellular damage. | ClinVar; OMIM (MIM 230000) |
| Neurodegeneration (secondary) | Accumulation of undegraded substrates in neurons leads to progressive neurological decline, a hallmark of fucosidosis. | OMIM; literature review |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 20.1 | High |
| Kidney | 15.3 | High |
| Placenta | 12.8 | High |
| Lung | 8.5 | Medium |
| Brain | 6.2 | Medium |
| Spleen | 5.9 | Medium |
| Heart | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver) | 18.5 | High expression |
| A549 (lung) | 7.2 | Medium expression |
| U-87 MG (brain) | 5.8 | Medium expression |
| MCF7 (breast) | 3.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.860G>A (p.Trp287Ter) | Nonsense | Rare | Premature stop codon leading to truncated non-functional protein |
| c.1000C>T (p.Arg334Ter) | Nonsense | Rare | Loss of enzyme activity |
| c.1222C>T (p.Arg408Ter) | Nonsense | Rare | Loss of enzyme activity |
| c.1A>G (p.Met1Val) | Missense | Rare | Disrupts translation initiation, likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Most FUCA1 mutations are loss-of-function, leading to reduced or absent alpha-L-fucosidase activity, causing fucosidosis.
Gain of Function (GOF)
No gain-of-function mutations reported for FUCA1.
Dominant Negative (DN)
No dominant-negative effects reported; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • alpha-L-fucosidase activity | • hydrolase activity |
| • carbohydrate metabolic process | • lysosome |
| • extracellular exosome |
Pathways
• Lysosome
• Glycosphingolipid metabolism
• Fucose metabolism
Protein Summary
Alpha-L-fucosidase 1 is a 466-amino acid lysosomal enzyme that exists as a homotetramer. It requires no cofactors and functions optimally at acidic pH. The enzyme removes terminal alpha-L-fucose residues from various glycoconjugates, playing a critical role in the catabolism of fucose-containing molecules. Deficiency leads to fucosidosis, a severe lysosomal storage disorder.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FUCA1 Knockout HEK293 Cell Line | EDJ-KQ4639 | Human | 2517 | Details Get a Quote |
| FUCA1 Knockout A-549 Cell Line | EDJ-KQ27324 | Human | 2517 | Details Get a Quote |
| FUCA1 Knockout HCT 116 Cell Line | EDJ-KQ27325 | Human | 2517 | Details Get a Quote |
| FUCA1 Knockout HeLa Cell Line | EDJ-KQ27326 | Human | 2517 | Details Get a Quote |
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