Tissue alpha-L-fucosidase

Tissue alpha-L-fucosidase is an enzyme that in humans is encoded by the FUCA1 gene.^[5][6]

AliasesFUCA1, FUCA, fucosidase, alpha-L- 1, tissue, alpha-L-fucosidase 1

External IDsOMIM: 612280; MGI: 95593; GeneCards: FUCA1

Chr.Chromosome 1 (human)^[1]

End23,868,290 bp^[1]

Quick facts FUCA1, Identifiers ...

FUCA1
Identifiers
Aliases	FUCA1, FUCA, fucosidase, alpha-L- 1, tissue, alpha-L-fucosidase 1
External IDs	OMIM: 612280; MGI: 95593; GeneCards: FUCA1
Enzyme activity EC # BRENDA ExPASy KEGG MetaCyc 3.2.1.51 ↗ ↗ ↗ ↗
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p36.11 Start 23,845,077 bp[1] End 23,868,290 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4 D3|4 68.01 cM Start 135,648,046 bp[2] End 135,667,622 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Databases NCBI: entry; OMA: entry 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: 135.65 – 135.67 Mb PubMed search [3] [4]
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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]