[Molecular forms of human leukocytic alpha-galactosidase and N-acetyl-alpha-galactosaminidase].
1. Normal human leukocytes present three molecular forms of alpha-galactosidase (EC 3.2.1.22) separated using electrofocusing: a new major form IV (pI 4.0) characteristic of leukocytes and two forms that exist in other tissues, form I (pI 4.5) and form II (pI 4.0). 2. Normal human leukocytes present only one molecular form (pI 4.5) of N-acetyl-alpha-galactosaminidase (EC 3.2.1.49) corresponding to alpha-galactosidase form II. 3. In leukocytes from patients with Fabry disease, the electrofocusing shows that the alpha-galactosidase lacking corresponds to forms I and IV, while the residual activity corresponds to form II (or N-acetyl-alpha-galactosaminidase).
D000116:Acetylgalactosamine; D000795:Fabry Disease / Q000201:enzymology; D005696:Galactosidases / Q000097:blood*; D006596:Hexosaminidases / Q000097:blood*; D006801:Humans; D007525:Isoelectric Focusing; D007962:Leukocytes / Q000201:enzymology*; D011487:Protein Conformation; D000519:alpha-Galactosidase / Q000097:blood*
D005696:Galactosidases; D006596:Hexosaminidases; D000519:alpha-Galactosidase; D000116:Acetylgalactosamine
Formes moléculaires de l'alpha-galactosidase et de la N-acétyl-alpha-galactosaminidase leucocytaires humanines.