Fucosidase

FUCA1
Identifiers
Aliases	FUCA1, FUCA, fucosidase, alpha-L- 1, tissue, alpha-L-fucosidase 1
External IDs	OMIM: 612280 MGI: 95593 HomoloGene: 20078 GeneCards: FUCA1
Gene ontology Molecular function • hydrolase activity • alpha-L-fucosidase activity • hydrolase activity, acting on glycosyl bonds Cellular component • cytoplasm • lysosome • lysosomal lumen • extracellular exosome • extracellular region • azurophil granule lumen Biological process • fucose metabolic process • metabolic process • glycosaminoglycan catabolic process • glycoside catabolic process • carbohydrate metabolic process • neutrophil degranulation • glycolipid catabolic process Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	2517	71665
Ensembl	ENSG00000179163	ENSMUSG00000028673
UniProt	P04066	Q99LJ1
RefSeq (mRNA)	NM_000147	NM_024243
RefSeq (protein)	NP_000138	NP_077205
Location (UCSC)	Chr 1: 23.85 – 23.87 Mb	Chr 4: 135.92 – 135.94 Mb
PubMed search

2517

71665

ENSG00000179163

ENSMUSG00000028673

P04066

Q99LJ1

NM_000147

NM_024243

NP_000138

NP_077205

Tissue alpha-L-fucosidase is an enzyme that in humans is encoded by the FUCA1 gene.

Alpha-Fucosidase is an enzyme that breaks down fucose.

Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues. Different phenotypes include clinical features such as neurologic deterioration, growth retardation, visceromegaly, and seizures in a severe early form; coarse facial features, angiokeratoma corporis diffusum, spasticity and delayed psychomotor development in a longer surviving form; and an unusual spondylometaphyseoepiphyseal dysplasia in yet another form.[supplied by OMIM]

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