Entrez gene ID | | 4126 |
Official gene symbol | | MANBA |
Full name | | mannosidase, beta A, lysosomal |
Aliases | | ,MANB1, |
Gene 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] |
Location | | Chromosome: 4 Locus: 4q22-q25 |
Gene position | | 103682151 - 103552643 Map Viewer |
Gene orientation | | minus |
Gene size | | 129509 bp |
Gene sequence |
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OMIM ID | | 609489 |
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