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 location (Human)
Chr.	Chromosome 1 (human)
End	23,868,290 bp
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)
End	135,667,622 bp
RNA expression pattern
	Top expressed in
	jejunal mucosa; ; rectum; ; corpus epididymis; ; duodenum; ; palpebral conjunctiva; ; renal medulla; ; pancreatic ductal cell; ; lymph node; ; seminal vesicula; ; placenta;
	Top expressed in
	duodenum; ; colon; ; left colon; ; kidney; ; jejunum; ; ileum; ; epithelium of stomach; ; crypt of lieberkuhn of small intestine; ; Paneth cell; ; parotid gland;
	More reference expression data
	More reference expression data
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; metabolism; glycosaminoglycan catabolic process; glycoside catabolic process; neutrophil degranulation; glycolipid catabolic process; carbohydrate metabolic process;
	Sources:Amigo / QuickGO
Orthologs
	2517
	71665
	ENSG00000179163
	ENSMUSG00000028673
	P04066
	Q99LJ1
	NM_000147
	NM_024243
	NP_000138
	NP_077205
	Wikidata
View/Edit Human	View/Edit Mouse

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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