title: Glycosphingolipid hydrolases: properties and molecular genetics.
abstract: This is a review of the properties and molecular genetics of six lysosomal hydrolases: beta-galactosidase, hexosaminidases A and B, alpha-galactosidase, beta-glucosidase and alpha-fucosidase. Each enzyme is discussed with regards to isoenzymes and substrate specificity, subunit structure, genetic relationship of isoenzymes and genetic variants. The molecular genetics of human diseases caused by deficiencies of each enzyme are discussed.
mesh_terms: D000818:Animals; D014644:Genetic Variation; D006026:Glycoside Hydrolases / Q000172:deficiency / Q000235:genetics* / Q000378:metabolism; D006028:Glycosphingolipids; D006596:Hexosaminidases; D006801:Humans; D007527:Isoenzymes; D046911:Macromolecular Substances; D000519:alpha-Galactosidase; D005644:alpha-L-Fucosidase; D001616:beta-Galactosidase; D001617:beta-Glucosidase
chemical_list: D006028:Glycosphingolipids; D007527:Isoenzymes; D046911:Macromolecular Substances; D006026:Glycoside Hydrolases; D006596:Hexosaminidases; D001617:beta-Glucosidase; D000519:alpha-Galactosidase; D001616:beta-Galactosidase; D005644:alpha-L-Fucosidase