Gene Symbol | MANBA |
Entrez Gene ID | 4126 |
Full Name | mannosidase beta |
Synonyms | MANB1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes 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. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Mannosidosis, beta, 248510 (3) |