Tissue alpha-L-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; OMA:FUCA1 - orthologs
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
	mucosa of sigmoid colon; ; mucosa of ileum; ; jejunal mucosa; ; rectum; ; corpus epididymis; ; duodenum; ; nasal epithelium; ; palpebral conjunctiva; ; renal medulla; ; pancreatic ductal cell;
	Top expressed in
	right kidney; ; duodenum; ; colon; ; left colon; ; human kidney; ; granulocyte; ; stroma of bone marrow; ; jejunum; ; ileum; ; epithelium of stomach;
	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.^[5]^[6]

Alpha-fucosidase is an enzyme that breaks out fucose.^[7]

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]^[6]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000179163 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000028673 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Occhiodoro T, Beckmann KR, Morris CP, Hopwood JJ (Nov 1989). "Human alpha-L-fucosidase: complete coding sequence from cDNA clones". Biochem. Biophys. Res. Commun. 164 (1): 439–45. doi:10.1016/0006-291X(89)91739-7. PMID 2803312.
^ ^a ^b "Entrez Gene: FUCA1 fucosidase, alpha-L- 1, tissue".
^ HPRD entry [1] Archived 2004-10-24 at the Wayback Machine

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000179163 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000028673 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid2803312-5] Occhiodoro T, Beckmann KR, Morris CP, Hopwood JJ (Nov 1989). "Human alpha-L-fucosidase: complete coding sequence from cDNA clones". Biochem. Biophys. Res. Commun. 164 (1): 439–45. doi:10.1016/0006-291X(89)91739-7. PMID 2803312.

[entrez-6] "Entrez Gene: FUCA1 fucosidase, alpha-L- 1, tissue".

[7] HPRD entry [1] Archived 2004-10-24 at the Wayback Machine

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