Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 2517
MIM: 612280
HGNC: 4006
Ensembl: ENSG00000179163
Variants:
dbSNP: 2517
ClinVar: 2517
TCGA: ENSG00000179163
COSMIC: FUCA1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000179163 | ENST00000374479 | P04066 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36876340 | 2023 | Extended analysis of exome sequencing data reveals a novel homozygous deletion of exons 3 and 4 in FUCA1 gene causing fucosidosis in an Indian family. | 1 |
| 36876340 | 2023 | Extended analysis of exome sequencing data reveals a novel homozygous deletion of exons 3 and 4 in FUCA1 gene causing fucosidosis in an Indian family. | 1 |
| 35907402 | 2022 | Cryo-EM structures of human fucosidase FucA1 reveal insight into substrate recognition and catalysis. | 3 |
| 36206736 | 2022 | The long-awaited structure of human fucosidase FucA1 opens novel avenues for the treatment of fucosidosis. | 0 |
| 35907402 | 2022 | Cryo-EM structures of human fucosidase FucA1 reveal insight into substrate recognition and catalysis. | 3 |
| 36206736 | 2022 | The long-awaited structure of human fucosidase FucA1 opens novel avenues for the treatment of fucosidosis. | 0 |
| 33826953 | 2021 | Clinical relevance of serum α-l-fucosidase activity in the SARS-CoV-2 infection. | 1 |
| 34126284 | 2021 | Comparative studies on the substrate specificity and defucosylation activity of three α-l-fucosidases using synthetic fucosylated glycopeptides and glycoproteins as substrates. | 7 |
| 33826953 | 2021 | Clinical relevance of serum α-l-fucosidase activity in the SARS-CoV-2 infection. | 1 |
| 34126284 | 2021 | Comparative studies on the substrate specificity and defucosylation activity of three α-l-fucosidases using synthetic fucosylated glycopeptides and glycoproteins as substrates. | 7 |
| 32125660 | 2020 | Fucosidosis with Pathogenic Variant in FUCA1 Gene. | 5 |
| 32125660 | 2020 | Fucosidosis with Pathogenic Variant in FUCA1 Gene. | 5 |
| 30729618 | 2019 | Alpha-L-fucosidase-1 is a diagnostic marker that distinguishes mucoepidermoid carcinoma from squamous cell carcinoma. | 4 |
| 30905462 | 2019 | Serum α-l-fucosidase activities are significantly increased in patients with preeclampsia. | 5 |
| 31419081 | 2019 | Plasma α-L-fucosidase-1 in patients with Sjögren's syndrome and other rheumatic disorders. | 2 |
Citation
Dessen P
FUCA1 (alpha-L-fucosidase 1)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/45671/fuca1-(alpha-l-fucosidase-1)
