Lysosomal alpha 3-D-mannosidase

alpha-mannosidosis in the human is an autosomal recessive lysosomal storage disease caused by a deficiency of lysosomal alpha-D-mannosidasea actvity. Lysosomal alpha-D-mannosidase is involved in the catabolism of N linked gly coproteins through the sequential degradation of high-mannose, hybrid and c omplex oligosaccharides. This review is focused on human, mouse, bovine and feline genes coding for lysosomal alpha-D-mannosidase, In particular the e xon-intron structure of the genes, their promoters, and the identification of mutations causing the disease have been examined. The construction, by h omologous recombination, of a mouse model of alpha-mannosidosis is reported .