FUCA1 recombinant protein

FUCA1 Protein, Human, Recombinant (His Tag)

Cat. Num. AAA8121563

• Gene Names: FUCA1; FUCA
• Purity: >95% as determined by SDS-PAGE
• Synonyms: FUCA1; FUCA1 Protein; Human; Recombinant (His Tag); Human FUCA1 Protein (His Tag); FUCA Protein; fucosidase; alpha-L- 1; tissue; FUCA1 recombinant protein

• Host: HEK293 Cells
• Purity/Purification: >95% as determined by SDS-PAGE
• Form/Format: Lyophilized from sterile PBS, pH7.4. Normally 5%-8% trehalose, mannitol and 0.01% Tween80 are added as protectants before lyophilization. Please refer to the specific buffer information in the hard copy of CoA.
• Sequence: Gln32-Lys466

• Species: Human
• Endotoxin: <1.0EU per ug of the protein as determined by the LAL method
• Predicted N Terminal: Gln 32
• Tag: C-His
• Protein Construction: A DNA sequence encoding the human FUCA1 (P04066)(Gln32-Lys466) was expressed with a polyhistidine tag at the C-terminus.
• Reconstitution: A hardcopy of COA with reconstitution instruction is sent along with the products. Please refer to it for detailed information.
• Preparation and Storage: Samples are stable for up to twelve months from date of receipt at -20 degree C to -80 degree C. Store it under sterile conditions at -20 degree C to -80 degree C. It is recommended that the protein be aliquoted for optimal storage. Avoid repeated freeze-thaw cycles.; In general, recombinant proteins are provided as lyophilized powder which are shipped at ambient temperature. Bulk packages of recombinant proteins are provided as frozen liquid.; They are shipped out with blue ice.

SDS-Page

Related Product Information for FUCA1 recombinant protein

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.

References

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.

NCBI and Uniprot Product Information

• NCBI GI #: 119360348
• NCBI GeneID: 2517
• NCBI Accession #: NP_000138.2
• NCBI GenBank Nucleotide #: NM_000147.4
• UniProt Accession #: P04066; Q14334; Q14335; Q3LID0; Q8NAC2; B2RBG3
• Molecular Weight: 53,689 Da
• NCBI Official Full Name: tissue alpha-L-fucosidase
• NCBI Official Synonym Full Names: fucosidase, alpha-L- 1, tissue
• NCBI Official Symbol: FUCA1
• NCBI Official Synonym Symbols: FUCA
• NCBI Protein Information: tissue alpha-L-fucosidase
• UniProt Protein Name: Tissue alpha-L-fucosidase
• Protein Family: Tissue alpha-L-fucosidase
• UniProt Gene Name: FUCA1
• UniProt Synonym Gene Names: Alpha-L-fucosidase 1
• UniProt Entry Name: FUCO_HUMAN

Uniprot Description

FUCA1: Alpha-L-fucosidase is responsible for hydrolyzing the alpha-1,6-linked fucose joined to the reducing-end N- acetylglucosamine of the carbohydrate moieties of glycoproteins. Defects in FUCA1 are the cause of fucosidosis (FUCA1D). FUCA1D is an autosomal recessive lysosomal storage disease characterized by accumulation of fucose-containing glycolipids and glycoproteins in various tissues. Clinical signs include facial dysmorphism, dysostosis multiplex, moderate hepatomegaly, severe intellectual deficit, deafness, and according to age, angiokeratomas. Belongs to the glycosyl hydrolase 29 family.

Protein type: EC 3.2.1.51; Glycan Metabolism - other glycan degradation; Hydrolase

Chromosomal Location of Human Ortholog: 1p34

Cellular Component: cytoplasm; lysosomal lumen

Molecular Function: alpha-L-fucosidase activity

Biological Process: fucose metabolic process; glycoside catabolic process

Disease: Fucosidosis