MANBA Chromosome 4
Mannosidase beta
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What This Gene Does
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]
Gene Info
Gene Group
Mannosidases type beta
Locus Type
gene with protein product
Location
4q24
Ensembl
ENSG00000109323
Associated Conditions (11)
Beta-D-mannosidosis
MANBA-related disorder
Sarcoma
Thymoma
Inborn genetic diseases
Meniere disease
Intellectual disability
Ovarian serous cystadenocarcinoma
Lung cancer
Hearing impairment
Gastric cancer
Key Variants
RS111353791
Conflicting classifications of pathogenicity
Beta-D-mannosidosis, Beta-D-mannosidosis
Health Risk
RS144917953
Conflicting classifications of pathogenicity
Beta-D-mannosidosis, MANBA-related disorder, Beta-D-mannosidosis
Health Risk
RS145367849
Conflicting classifications of pathogenicity
Beta-D-mannosidosis, Sarcoma, Thymoma
Health Risk
RS147437033
Conflicting classifications of pathogenicity
Beta-D-mannosidosis, MANBA-related disorder, Beta-D-mannosidosis
Health Risk
RS147542645
Conflicting classifications of pathogenicity
Beta-D-mannosidosis, Meniere disease, Beta-D-mannosidosis
Health Risk
RS149902075
Conflicting classifications of pathogenicity
Beta-D-mannosidosis, Beta-D-mannosidosis
Health Risk
RS150554352
Conflicting classifications of pathogenicity
Beta-D-mannosidosis, MANBA-related disorder, Beta-D-mannosidosis
Health Risk
RS1730293546
Conflicting classifications of pathogenicity
Beta-D-mannosidosis, Beta-D-mannosidosis
Health Risk
RS180816849
Conflicting classifications of pathogenicity
Beta-D-mannosidosis, Beta-D-mannosidosis
Health Risk
RS200935345
Conflicting classifications of pathogenicity
Beta-D-mannosidosis, Beta-D-mannosidosis
Health Risk
RS201779762
Conflicting classifications of pathogenicity
Beta-D-mannosidosis, Beta-D-mannosidosis
Health Risk
RS369478532
Conflicting classifications of pathogenicity
Beta-D-mannosidosis, Beta-D-mannosidosis
Health Risk
All Variants (112)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1732439983 | Health Risk | Pathogenic/Likely pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS374377679 | Health Risk | Pathogenic/Likely pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS759449765 | Health Risk | Pathogenic/Likely pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS760992372 | Health Risk | Pathogenic/Likely pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS764364492 | Health Risk | Pathogenic/Likely pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS771465504 | Health Risk | Pathogenic/Likely pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS771865668 | Health Risk | Pathogenic/Likely pathogenic | Beta-D-mannosidosis, MANBA-related disorder, Beta-D-mannosidosis |
| RS775574131 | Health Risk | Pathogenic/Likely pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS776601022 | Health Risk | Pathogenic/Likely pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS779221957 | Health Risk | Pathogenic/Likely pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS780068572 | Health Risk | Pathogenic/Likely pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS890870104 | Health Risk | Pathogenic/Likely pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |