Human Tissue alpha-L-fucosidase ELISA Kit | FUCA1 elisa kit
Human Tissue alpha-L-fucosidase ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
The protein encoded by this gene is a lysosomal enzyme involved in the degradation of fucose-containing glycoproteins and glycolipids. Mutations in this gene are associated with fucosidosis (FUCA1D), which is an autosomal recessive lysosomal storage disease. A pseudogene of this locus is present on chr 2.[provided by RefSeq, Oct 2009]
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: 1p36.11
Cellular Component: cytoplasm; extracellular region; lysosomal lumen
Molecular Function: alpha-L-fucosidase activity
Biological Process: fucose metabolic process; glycoside catabolic process; neutrophil degranulation
Disease: Fucosidosis
Research Articles on FUCA1
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Product Notes
The Human FUCA1 fuca1 (Catalog #AAA9426111) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9426111 ELISA Kit recognizes Human FUCA1. It is sometimes possible for the material contained within the vial of "Tissue alpha-L-fucosidase, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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