FUCA1
The protein encoded by this gene is a lysosomal enzyme involved in the degradation of fucose-containing glycoproteins and glycolipids. Mutations in this gene are associated with fucosidosis (FUCA1D), which is an autosomal recessive lysosomal storage disease. A pseudogene of this locus is present on chr 2.[provided by RefSeq, Oct 2009]
Full Name
Alpha-L-Fucosidase 1
Function
Alpha-L-fucosidase is responsible for hydrolyzing the alpha-1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins.
Biological Process
Fucose metabolic process Source: UniProtKB
Glycolipid catabolic process Source: BHF-UCL
Glycosaminoglycan catabolic process Source: UniProtKB
Glycoside catabolic process Source: UniProtKB
Glycolipid catabolic process Source: BHF-UCL
Glycosaminoglycan catabolic process Source: UniProtKB
Glycoside catabolic process Source: UniProtKB
Cellular Location
Lysosome
Involvement in disease
Fucosidosis (FUCA1D):
An autosomal recessive lysosomal storage disease characterized by accumulation of fucose-containing glycolipids and glycoproteins in various tissues. Clinical signs include facial dysmorphism, dysostosis multiplex, moderate hepatomegaly, severe intellectual deficit, deafness, and according to age, angiokeratomas.
An autosomal recessive lysosomal storage disease characterized by accumulation of fucose-containing glycolipids and glycoproteins in various tissues. Clinical signs include facial dysmorphism, dysostosis multiplex, moderate hepatomegaly, severe intellectual deficit, deafness, and according to age, angiokeratomas.
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Anti-FUCA1 antibodies
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Target: FUCA1
Host: Mouse
Antibody Isotype: IgG
Specificity: Human
Clone: CBYC-A958
Application*: WB, IC, P, C, E
Target: FUCA1
Host: Mouse
Antibody Isotype: IgG2b, κ
Specificity: Human
Clone: 1D4
Application*: E, WB
Target: FUCA1
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: CBXF-0955
Application*: WB
Target: FUCA1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBYJT-1284
Application*: WB
Target: FUCA1
Host: Mouse
Antibody Isotype: IgG
Specificity: Rat
Clone: CBYC-A959
Application*: WB, IC, P, C, E
Target: FUCA1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBXF-3232
Application*: E, WB
Target: FUCA1
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human, Mouse
Clone: CBXF-1101
Application*: WB, F
Target: FUCA1
Specificity: Human
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For Research Use Only. Not For Clinical Use.
(P): Predicted
* Abbreviations
- AActivation
- AGAgonist
- APApoptosis
- BBlocking
- BABioassay
- BIBioimaging
- CImmunohistochemistry-Frozen Sections
- CIChromatin Immunoprecipitation
- CTCytotoxicity
- CSCostimulation
- DDepletion
- DBDot Blot
- EELISA
- ECELISA(Cap)
- EDELISA(Det)
- ESELISpot
- EMElectron Microscopy
- FFlow Cytometry
- FNFunction Assay
- GSGel Supershift
- IInhibition
- IAEnzyme Immunoassay
- ICImmunocytochemistry
- IDImmunodiffusion
- IEImmunoelectrophoresis
- IFImmunofluorescence
- IGImmunochromatography
- IHImmunohistochemistry
- IMImmunomicroscopy
- IOImmunoassay
- IPImmunoprecipitation
- ISIntracellular Staining for Flow Cytometry
- LALuminex Assay
- LFLateral Flow Immunoassay
- MMicroarray
- MCMass Cytometry/CyTOF
- MDMeDIP
- MSElectrophoretic Mobility Shift Assay
- NNeutralization
- PImmunohistologyp-Paraffin Sections
- PAPeptide Array
- PEPeptide ELISA
- PLProximity Ligation Assay
- RRadioimmunoassay
- SStimulation
- SESandwich ELISA
- SHIn situ hybridization
- TCTissue Culture
- WBWestern Blot
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