Cat No.
NATE-0265
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 (Microbial)
Alias
FUCA1; FUCA
Species
Microbial
Form
Solution in 20 mM Tris.HCl pH 7.5, 50 mM NaCl, 0.1 mM EDTA plus 0.02% (w/v) sodium azide.
Bio-activity
170 U/mg
Molecular Mass
85 kDa daltons
Isoelectric point
5.3
Specificity
Hydrolysis of terminal non-reducing α-1,2-linked L-fucose residues from glycoproteins and oligosaccharides.
The enzyme does not hydrolyse pNP-α-L-fucoside.
Unit Definition
One Unit of α-1,2-L-fucosidase activity is defined as the amount of enzyme required to release one μmol of α-L-fucose per minute from 2’-fucosyllactose (2 mM) in sodium phosphate buffer (100 mM) at pH 6.5.
Synonyms
α (1-2) Fucosidase; alpha-L-fucosidase; Alpha-Fucosidase; FUCA1; FUCA
