• Fucosidosis is a rare lysosomal storage disorder in which the FUCA1 gene experiences mutations that severely reduce or stop the activity of the alpha-L-fucosidase enzyme. (wikipedia.org)
  • The gene encoding the alpha-fucosidase, FUCA 1, was found to be located to the short arm of chromosome 1p36 - p34, by Carrit and co-workers, in 1982. (wikipedia.org)
  • The FUCA1 gene provides instructions for making an enzyme called alpha-L-fucosidase. (wikipedia.org)
  • The FUCA1 gene provides instructions for making an enzyme called alpha-L-fucosidase. (medlineplus.gov)
  • There are currently no images for Tissue alpha-L-Fucosidase/FUCA1 Antibody (NBP3-21436). (novusbio.com)
  • At least 2 separate polymorphic alpha-L-fucosidases are recognized in man: that in tissues, FUCA1, which is deficient in fucosidosis (MIM 230000), and that in plasma, FUCA2 (MIM 136820). (novusbio.com)
  • Fucosidosis is a rare lysosomal storage disorder in which the FUCA1 gene experiences mutations that severely reduce or stop the activity of the alpha-L-fucosidase enzyme. (wikipedia.org)
  • Alpha-L-fucosidase (EC 3.2.1.51) is a lysosomal enzyme involved in the degradation of fucose-containing glycoproteins and glycolipids (Occhiodoro et al. (novusbio.com)
  • Most of these mutations result in an abnormally short, nonfunctional alpha-L-fucosidase enzyme. (medlineplus.gov)
  • The deficiency of the enzyme alpha-L-fucosidase, which is used to metabolize complex compounds in the body (fucose-containing glycolipids and fucose-containing glycoproteins), leads to lysosomal accumulation of a variety of glycoproteins, glycolipids, and oligosaccharides that contain fucose moieties. (wikipedia.org)
  • The gene encoding the alpha-fucosidase, FUCA 1, was found to be located to the short arm of chromosome 1p36 - p34, by Carrit and co-workers, in 1982. (wikipedia.org)
  • Alpha-L-fucosidase is responsible for cutting (cleaving) off a sugar molecule called fucose toward the end of the breakdown process. (medlineplus.gov)
  • 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. (nih.gov)