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

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