MANBA Chromosome 4
Mannosidase beta
Upload your DNA to see your personal genotypes for variants in MANBA.
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 |
|---|---|---|---|
| RS121434335 | Health Risk | Pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS121434336 | Health Risk | Pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS1249251683 | Health Risk | Pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS1267827826 | Health Risk | Pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS1270359418 | Health Risk | Pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS1309076303 | Health Risk | Pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS1404226085 | Health Risk | Pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS1437481110 | Health Risk | Pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS1560752842 | Health Risk | Pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS1729554501 | Health Risk | Pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS1730296951 | Health Risk | Pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS1730640591 | Health Risk | Pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS1731366707 | Health Risk | Pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS2476717919 | Health Risk | Pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS2476721403 | Health Risk | Pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS2476721458 | Health Risk | Pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS2476721748 | Health Risk | Pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS2476757946 | Health Risk | Pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS2476758160 | Health Risk | Pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS2476765770 | Health Risk | Pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS2476765995 | Health Risk | Pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS2476766159 | Health Risk | Pathogenic | — |
| RS2476774436 | Health Risk | Pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS2476774466 | Health Risk | Pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS2476774517 | Health Risk | Pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS2476779375 | Health Risk | Pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS2476782303 | Health Risk | Pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS2476782313 | Health Risk | Pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS2476786433 | Health Risk | Pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS2476805306 | Health Risk | Pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS2476807378 | Health Risk | Pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS2476807479 | Health Risk | Pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS2476807656 | Health Risk | Pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS2476875909 | Health Risk | Pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS2476904924 | Health Risk | Pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS2477036536 | Health Risk | Pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS2528106112 | Health Risk | Pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS371368353 | Health Risk | Pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS752343321 | Health Risk | Pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS763849774 | Health Risk | Pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS771587242 | Health Risk | Pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS772852668 | Health Risk | Pathogenic | Beta-D-mannosidosis, Hearing impairment, Gastric cancer |
| RS774701514 | Health Risk | Pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS777415626 | Health Risk | Pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS781133275 | Health Risk | Pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS866558712 | Health Risk | Pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS903990993 | Health Risk | Pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS1198947705 | Health Risk | Pathogenic/Likely pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS1266964950 | Health Risk | Pathogenic/Likely pathogenic | MANBA-related disorder, Beta-D-mannosidosis, MANBA-related disorder |
| RS1553948361 | Health Risk | Pathogenic/Likely pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |