Description
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.
Abbr
FUCA, Recombinant (Elizabethkingia miricola)
Species
Elizabethkingia miricola
Package
0.04 unit in glass bottle
Form
buffered aqueous solution, Solution in 20 mM Tris-HCl, pH 7.5, 25 mM NaCl
Enzyme Commission Number
EC 3.2.1.51
Activity
> 1.8 units/mg protein
Unit Definition
One unit will release 1.0 μmole of methylumbelliferone from 4-methylumbelliferyl α-L-fucoside per min at pH 5.0 at 37°C
Pathway
Lysosome, organism-specific biosystem; Other glycan degradation, organism-specific biosystem
Function
alpha-L-fucosidase activity; carbohydrate binding
Synonyms
α-1,6-Fucosidase; alpha-L-fucosidase; Alpha-Fucosidase; FUCA1; FUCA; 9037-65-4
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