Article
Active arginine residues in beta-hexosaminidase. Identification through studies of the B1 variant of Tay-Sachs disease.
The Journal of biological chemistry - 25 Aug 1991
Brown C A, Mahuran D J
Abstract excerpt
Lysosomal beta-hexosaminidase (EC 3.2.1.52) occurs as two major isoenzymes, hexosaminidases A (alpha beta) and B (beta beta). The alpha- and beta-subunits are encoded by the HEXA and HEXB genes, respectively. Extensive homology in both the gene structures and deduced primary sequences demonstrate their common evolutionary origin. Defects in the alpha- or beta-subunits lead to Tay-Sachs of Sandhoff disease,...
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