Conjugation: Biotin
Description of Target: Alpha-L-fucosidase (EC 3.2.1.51) is a lysosomal enzyme involved in the degradation of fucose-containing glycoproteins and glycolipids. At least 2 separate polymorphic alpha-L-fucosidases are recognized in man: that in tissues, FUCA1, which is deficient in fucosidosis, and that in plasma, FUCA2. 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.[supplied by OMIM]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Entrez Gene record to access additional publications.
Immunogen: The immunogen is a synthetic peptide directed towards the N terminal region of human FUCA1
Key Reference: Venditti,J.J., (2007) Mol. Reprod. Dev. 74 (6), 758-766
Molecular Weight: 54kDa
Peptide Sequence: Synthetic peptide located within the following region:
PSPVSWNWNSKDVGPHRDLVGELGTALRKRNIRYGLYHSLLEWFHPLYLLProduct Format: Liquid. Purified antibody supplied in 1x PBS buffer.
Protein Name: Tissue alpha-L-fucosidase
Protein Size: 466
Purification: Affinity Purified
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