Fucosidase

Fucosidase, alpha-L- 1, tissue
Identifiers
Symbols	FUCA1 ; FUCA
External IDs	OMIM: 612280 MGI: 95593 HomoloGene: 20078 ChEMBL: 4176 GeneCards: FUCA1 Gene
EC number	3.2.1.51
Gene ontology Molecular function • alpha-L-fucosidase activity Cellular component • cytoplasm • lysosome • extracellular exosome Biological process • fucose metabolic process • glycosaminoglycan catabolic process • glycoside catabolic process Sources: Amigo / QuickGO
RNA expression pattern
File:PBB GE FUCA1 202838 at tn.png
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	[2]	[3]

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]

See also

• Fucosidosis

External links

• Fucosidase at the US National Library of Medicine Medical Subject Headings (MeSH)