Cat No.
NATE-0259
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, Native
Alias
FUCA1; FUCA
Form
buffered aqueous solution, Solution in 20 mM Tris-HCl, pH 7.5, 25 mM NaCl
Enzyme Commission Number
EC 3.2.1.51
Bio-activity
> 0.4 units/mg protein
CAS No.
9037-65-4
Unit Definition
One unit will release 1.0 μmole of fucose from 2′-fucosyllactose per min at pH 5.0 at 37°C
Package
vial of 0.004 unit
Gene Name
FUCA1 fucosidase, alpha-L-1, tissue [Homo sapiens (human)]
Synonyms
α-1,2-Fucosidase; alpha-L-fucosidase; Alpha-Fucosidase; FUCA1; FUCA; 9037-65-4
GeneID
2517
Chromosome Location
1p34
Pathway
Lysosome, organism-specific biosystem; Other glycan degradation, organism-specific biosystem
Function
alpha-L-fucosidase activity; carbohydrate binding
