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  • Mutations
  • In Fabry disease (FD, OMIM #301500), mutations in the GLA gene (Xq22.1 300,644) lead to a defect in alpha-galactosidase A with a subsequent accumulation of glycosphingolipids, notably globotriaosylceramide (Gb3) and globotriaosylsphingosine ( lyso Gb3). (biomedcentral.com)
  • HYDROLASE
  • Glycoside hydrolase family 27 together with family 31 and the family 36 alpha-galactosidases form the glycosyl hydrolase clan GH-D (CAZY GH), a superfamily of alpha-galactosidases, alpha-N-acetylgalactosaminidases, and isomaltodextranases which are likely to share a common catalytic mechanism and structural topology. (wikipedia.org)
  • Entry
  • Now EC 3.4.21.37, leukocyte elastase EC 3.4.21.12: alpha-lytic endopeptidase EC 3.4.21.13: Transferred entry: Phaseolus proteinase. (wikipedia.org)
  • structure
  • The loop in the alpha subunit, consisting of Gly-280, Ser-281, Glu-282, and Pro-283 which is absent in the beta subunit, serves as an ideal structure for the binding of the GM2 activator protein (GM2AP), and arginine is essential for binding the N-acetyl-neuraminic acid residue of GM2 gangliosides. (wikipedia.org)
  • works
  • A glutamate residue (alpha Glu-323/beta Glu-355) works as an acid by donating its hydrogen to the glycosidic oxygen atom on the GalNAc residue. (wikipedia.org)
  • BETA
  • Raffinose (O-alpha- D-galactopyranosyl- (1-->6)- O-alpha- D-glucopyranosyl-(1 2)- O-beta- D-fructofuranoside) is a widespread oligosaccharide in plant seeds and other tissues. (wikipedia.org)
  • An aspartate residue (alpha Asp-322/beta Asp-354) positions the C2-acetamindo group so that it can be attacked by the nucleophile (N-acetamido oxygen atom on carbon 1 of the substrate). (wikipedia.org)