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MANBA is a member of the glycosyl hydrolase 2 family. The encoded protein localizes to the lysosome where it is the final exoglycosidase in the pathway for N-linked glycoprotein oligosaccharide catabolism. Mutations in this gene are associated with beta-mannosidosis, a lysosomal storage disease that has a wide spectrum of neurological involvement.
Gene Name: | mannosidase, beta A, lysosomal |
Synonyms: | MANBA, Lysosomal beta A mannosidase, Mannase, MANB1, Beta-mannosidase, Mannanase, Mannosidase, beta A, lysosomal |
Target Sequences: | NM_005908 NP_005899.3 O00462 |
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