Entity Details
| Primary name |
MANBA_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | O00462 |
| EntryName | MANBA_HUMAN |
| FullName | Beta-mannosidase |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 879 |
| SequenceStatus | complete |
| DateCreated | 1998-07-15 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Lysosome |
Domains
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| Domain | Name | Category | Type |
| IPR006103 | Glycoside hydrolase family 2, catalytic domain | Domain | Domain |
| IPR008979 | Galactose-binding-like domain superfamily | Family | Homologous superfamily |
| IPR013783 | Immunoglobulin-like fold | Family | Homologous superfamily |
| IPR017853 | Glycoside hydrolase superfamily | Family | Homologous superfamily |
| IPR036156 | Beta-Galactosidase/glucuronidase domain superfamily | Family | Homologous superfamily |
| IPR041447 | Mannosidase Ig/CBM-like domain | Domain | Domain |
| IPR041625 | Beta-mannosidase, Ig-fold domain | Domain | Domain |
Diseases
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| Disease ID | Source | Name | Description |
| 248510 | OMIM | Mannosidosis, beta A, lysosomal (MANSB) | An autosomal recessive lysosomal storage disease of glycoprotein catabolism. Clinical features are heterogeneous with a wide range of symptoms and age of onset. The disease is associated with a range of neurological involvement, including various degrees of mental retardation in most of the cases, hearing loss and speech impairment, hypotonia, epilepsy and peripheral neuropathy. Affected individuals have a profound reduction in beta A mannosidase activity in plasma, fibroblasts and leukocytes. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
0 interactions
| Interactor | Partner | Sources | Publications | Link |