HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
FUCA1
alpha-L-fucosidase 1
Chromosome 1 Β· 1p36.11
NCBI Gene: 2517Ensembl: ENSG00000179163.13HGNC: HGNC:4006UniProt: P04066
95PubMed Papers
21Diseases
0Drugs
86Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingalpha-L-fucosidase activityextracellular exosomefucose metabolic processfucosidosisgenetic disorderIntellectual disabilitySeizure
✦AI Summary

FUCA1 encodes alpha-L-fucosidase 1, a lysosomal enzyme responsible for hydrolyzing alpha-1,6-linked fucose from the carbohydrate moieties of glycoproteins and glycolipids 1. The enzyme functions as a homotetrameric protein with aspartate-276 identified as the catalytic acid/base residue 2. FUCA1 is the exclusive lysosomal de-fucosylation enzyme, with FUCA2 showing no enzymatic activity despite prior speculation 1. Loss-of-function mutations in FUCA1 cause fucosidosis, a rare autosomal recessive lysosomal storage disorder characterized by accumulation of fucosylated glycoconjugates in lysosomes 3. Clinical manifestations include progressive neurological deterioration, dystonia, spasticity, coarse facies, visceromegaly, angiokeratoma, and recurrent infections 3. Novel mutations continue to be identified, including splice variants, frameshift deletions, and large deletions involving multiple genes 4, 5. Beyond lysosomal storage disease, FUCA1 functions as a p53 target gene with tumor-suppressive properties 6. FUCA1 expression is significantly decreased in colorectal cancers and correlates with disease progression 7. Enzymatic defucosylation by FUCA1 suppresses epidermal growth factor receptor activation and cancer cell growth 6. FUCA1 expression also associates with better osteosarcoma prognosis and enhanced immune microenvironment through macrophage activation 8.

Sources cited
1
FUCA1 is a homotetrameric lysosomal protein with aspartate-276 as the catalytic acid/base residue
PMID: 35907402
2
FUCA1 is the exclusive lysosomal enzyme responsible for de-fucosylation of glycoconjugates; FUCA2 lacks enzymatic activity
PMID: 40940767
3
Fucosidosis is caused by FUCA1 mutations and presents with dystonia, spasticity, coarse facies, visceromegaly, angiokeratoma, and infections
PMID: 31064022
4
Frameshift mutations in FUCA1 cause fucosidosis with pathogenic consequences
PMID: 29588375
5
Novel FUCA1 mutations including nonsense variants and large deletions cause fucosidosis with neurological deterioration
PMID: 41636194
6
FUCA1 is a p53 target gene with tumor-suppressive function through defucosylation and EGFR inhibition
PMID: 26998741
7
FUCA1 expression is decreased in colorectal tumors and correlates with disease progression
PMID: 23965968
8
FUCA1 expression associates with better osteosarcoma prognosis and enhanced immune cell infiltration
PMID: 38844271
Disease Associationsβ“˜21
fucosidosisOpen Targets
0.84Strong
genetic disorderOpen Targets
0.41Moderate
Intellectual disabilityOpen Targets
0.37Weak
SeizureOpen Targets
0.37Weak
Abnormality of the nervous systemOpen Targets
0.34Weak
corneal dystrophyOpen Targets
0.27Weak
liver diseaseOpen Targets
0.27Weak
neoplasmOpen Targets
0.10Weak
gliomaOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.09Suggestive
glioblastoma multiformeOpen Targets
0.08Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
cancerOpen Targets
0.07Suggestive
esophageal squamous cell carcinomaOpen Targets
0.07Suggestive
malignant pleural mesotheliomaOpen Targets
0.07Suggestive
papillary thyroid carcinomaOpen Targets
0.07Suggestive
triple-negative breast cancerOpen Targets
0.06Suggestive
Ehlers-Danlos syndrome, musculocontractural typeOpen Targets
0.05Suggestive
Young adult-onset ParkinsonismOpen Targets
0.05Suggestive
FucosidosisUniProt
Pathogenic Variants86
NM_000147.5(FUCA1):c.699G>A (p.Trp233Ter)Pathogenic
Fucosidosis|FUCA1-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 233
NM_000147.5(FUCA1):c.7del (p.Ala3fs)Pathogenic
Fucosidosis
β˜…β˜…β˜†β˜†2026β†’ Residue 3
NM_000147.5(FUCA1):c.551C>G (p.Ser184Ter)Pathogenic
Fucosidosis
β˜…β˜…β˜†β˜†2026β†’ Residue 184
NM_000147.5(FUCA1):c.1125G>A (p.Trp375Ter)Pathogenic
Fucosidosis|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 375
NM_000147.5(FUCA1):c.1285_1286insT (p.Asp429fs)Pathogenic
Fucosidosis
β˜…β˜…β˜†β˜†2025β†’ Residue 429
NM_000147.5(FUCA1):c.790C>T (p.Arg264Ter)Pathogenic
Fucosidosis|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 264
NM_000147.5(FUCA1):c.1289_1301del (p.Leu430fs)Pathogenic
Fucosidosis
β˜…β˜…β˜†β˜†2024β†’ Residue 430
NM_000147.5(FUCA1):c.393T>A (p.Tyr131Ter)Pathogenic
not provided|Fucosidosis
β˜…β˜…β˜†β˜†2024β†’ Residue 131
NM_000147.5(FUCA1):c.768+1G>TLikely pathogenic
Fucosidosis
β˜…β˜…β˜†β˜†2024
NM_000147.5(FUCA1):c.1279C>T (p.Gln427Ter)Pathogenic
Fucosidosis
β˜…β˜…β˜†β˜†2024β†’ Residue 427
NM_000147.5(FUCA1):c.244C>T (p.Gln82Ter)Pathogenic
Fucosidosis
β˜…β˜…β˜†β˜†2024β†’ Residue 82
NM_000147.5(FUCA1):c.698G>A (p.Trp233Ter)Pathogenic
Fucosidosis
β˜…β˜…β˜†β˜†2024β†’ Residue 233
NM_000147.5(FUCA1):c.661del (p.Ser221fs)Pathogenic
Fucosidosis
β˜…β˜…β˜†β˜†2024β†’ Residue 221
NM_000147.5(FUCA1):c.1057G>T (p.Glu353Ter)Pathogenic
Fucosidosis
β˜…β˜…β˜†β˜†2024β†’ Residue 353
NM_000147.5(FUCA1):c.768+1G>APathogenic
Fucosidosis|Abnormality of the nervous system
β˜…β˜…β˜†β˜†2024
NM_000147.5(FUCA1):c.1138G>T (p.Glu380Ter)Pathogenic
Fucosidosis|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 380
NM_000147.5(FUCA1):c.662_662+8delPathogenic
Fucosidosis
β˜…β˜…β˜†β˜†2023
NM_000147.5(FUCA1):c.1082G>A (p.Trp361Ter)Pathogenic
not provided|FUCA1-related disorder|Fucosidosis
β˜…β˜…β˜†β˜†2023β†’ Residue 361
NM_000147.5(FUCA1):c.194G>A (p.Gly65Asp)Pathogenic
Fucosidosis
β˜…β˜…β˜†β˜†2023β†’ Residue 65
NM_000147.5(FUCA1):c.203C>T (p.Ser68Leu)Likely pathogenic
Fucosidosis
β˜…β˜…β˜†β˜†2023β†’ Residue 68
View on ClinVar β†—
Related Genes
PGM1Protein interaction95%PGM2Protein interaction85%AK2Protein interaction83%PGDProtein interaction77%FUCA2Protein interaction77%GLB1Protein interaction75%
Tissue Expression6 tissues
Liver
100%
Heart
73%
Lung
58%
Ovary
55%
Brain
39%
Bone Marrow
26%
Gene Interaction Network
Click a node to explore
FUCA1PGM1PGM2AK2PGDFUCA2GLB1
PROTEIN STRUCTURE
Preparing viewer…
PDB7PLS Β· 2.49 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.16LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.91 [0.72–1.16]
RankingsWhere FUCA1 stands among ~20K protein-coding genes
  • #5,030of 20,598
    Most Researched95 Β· top quartile
  • #869of 5,498
    Most Pathogenic Variants86 Β· top quartile
  • #12,138of 17,882
    Most Constrained (LOEUF)1.16
Genes detectedFUCA1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
A Novel Homozygous Mutation in the FUCA1 Gene Highlighting Fucosidosis as a Cause of Dystonia: Case Report and Literature Review.
PMID: 31064022
Neuropediatrics Β· 2019
1.00
2
Cryo-EM structures of human fucosidase FucA1 reveal insight into substrate recognition and catalysis.
PMID: 35907402
Structure Β· 2022
0.90
3
Novel p53 target gene FUCA1 encodes a fucosidase and regulates growth and survival of cancer cells.
PMID: 26998741
Cancer Sci Β· 2016
0.80
4
Decreased expression of alpha-L-fucosidase gene FUCA1 in human colorectal tumors.
PMID: 23965968
Int J Mol Sci Β· 2013
0.70
5
Deciphering Ξ±-L-Fucosidase Activity Contribution in Human and Mouse: Tissue Ξ±-L-Fucosidase FUCA1 Meets Plasma Ξ±-L-Fucosidase FUCA2.
PMID: 40940767
Cells Β· 2025
0.60