Human FUCA1 Protein (His Tag)

FUCA

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Catalog Number	P13893-H08H
Organism Species	Human
Host	Human Cells
Synonyms	FUCA
Molecular Weight	The recombinant human FUCA1 consists of 446 amino acids and predicts a molecular mass of 51.9 KDa. It migrates as an approximately 57 KDa band in SDS-PAGE under reducing conditions.
predicted N	Gln 32
SDS-PAGE
Purity	> 95 % as determined by SDS-PAGE
Protein Construction	A DNA sequence encoding the human FUCA1 (P04066) (Gln32-Lys466) was expressed with a polyhistidine tag at the C-terminus.
Bio-activity
Research Area	Developmental Biology |Metabolism |Types of disease |Metabolism in Cancer
Formulation	Lyophilized from sterile PBS, pH 7.4 1. Normally 5 % - 8 % trehalose, mannitol and 0.01% Tween80 are added as protectants before lyophilization. Specific concentrations are included in the hardcopy of COA.
Background	FUCA1 is a lysosomal enzyme involved in the degradation of fucose-containing glycoproteins and glycolipids. Mutations in FUCA1 gene are associated with fucosidosis (FUCA1D), which is an autosomal recessive lysosomal storage disease. 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.
Reference	Yang M, et al. (1993) A mutation generating a stop codon in the alpha-L-fucosidase gene of a fucosidosis patient. Biochem Biophys Res Commun. 189(2):1063-8. Fukushima H, et al. (1991) Sequencing and expression of a full-length cDNA for human alpha-L-fucosidase. J Inherit Metab Dis. 13(5):761-5. Kretz KA, et al. (1990) Characterization of EcoRI mutation in fucosidosis patients: a stop codon in the open reading frame. J Mol Neurosci. 1(3):177-80.