title: Hexosaminidase C in Tay-Sachs and Sandhoff disease.
abstract: 1. Hexosaminidase C has been purified from human placenta. Complete separation from hexosaminidases A and B was achieved. 2. The following properties of hexosaminidase C differ from those of the A and B isozymes. Presence in the supernatant rather than the lysosomes, neutral pH optimum, higher molecular weight, lack of activity on beta-N-acetylgalactosamine derivatives, and lack of immunological relationship. 3. Hexosaminidase C is active in patients deficient in hexosaminidases A and B and can be recognized by its characteristic electrophoretic mobility. It is concluded that the genetic origin of hexosaminidase C is probably different from that of hexosaminidases A and B.
mesh_terms: D000116:Acetylgalactosamine; D000818:Animals; D000937:Antigen-Antibody Reactions; D002239:Carbohydrate Metabolism, Inborn Errors / Q000201:enzymology*; D003600:Cytosol / Q000201:enzymology; D004355:Drug Stability; D004588:Electrophoresis, Cellulose Acetate; D005260:Female; D006596:Hexosaminidases / Q000302:isolation & purification / Q000378:metabolism*; D006358:Hot Temperature; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007527:Isoenzymes / Q000302:isolation & purification / Q000378:metabolism*; D007700:Kinetics; D008064:Lipidoses / Q000201:enzymology*; D008247:Lysosomes / Q000201:enzymology; D008970:Molecular Weight; D010920:Placenta / Q000201:enzymology*; D011247:Pregnancy; D011817:Rabbits / Q000276:immunology; D013329:Structure-Activity Relationship; D013347:Subcellular Fractions / Q000201:enzymology
chemical_list: D007527:Isoenzymes; D006596:Hexosaminidases; D000116:Acetylgalactosamine