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: Glycan Metabolism - other glycan degradation; EC 3.2.1.51; Hydrolase
Chromosomal Location of Human Ortholog: 1p34
Cellular Component: lysosome; cytoplasm
Molecular Function: alpha-L-fucosidase activity; fucose binding
Biological Process: fucose metabolic process; glycosaminoglycan catabolic process; glycoside catabolic process
Disease: Fucosidosis
Research Articles on FUCa1
Similar Products
Product Notes
The Sheep FUCa1 fuca1 (Catalog #AAA741823) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA741823 ELISA Kit recognizes Sheep FUCa1. It is sometimes possible for the material contained within the vial of "Fucosidase, Alpha L1, Tissue, 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
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