Tissue alpha-L-fucosidase
Protein-coding gene in the species Homo sapiens / From Wikipedia, the free encyclopedia
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Tissue alpha-L-fucosidase is an enzyme that in humans is encoded by the FUCA1 gene.[5][6]
FUCA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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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 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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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]