MAN2B1 Chromosome 19
Mannosidase alpha class 2B member 1
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What This Gene Does
This gene encodes an enzyme that hydrolyzes terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. Its activity is necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover and it is member of family 38 of glycosyl hydrolases. The full length protein is processed in two steps. First, a 49 aa leader sequence is cleaved off and the remainder of the protein is processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). Next, the 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide-linked. Defects in this gene have been associated with lysosomal alpha-mannosidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]
Gene Info
Gene Group
Mannosidases alpha class 2
Locus Type
gene with protein product
Location
19p13.13
Ensembl
ENSG00000104774
Associated Conditions (12)
Deficiency of alpha-mannosidase
MAN2B1-related disorder
Thyroid cancer
nonmedullary
1
Ovarian serous cystadenocarcinoma
Inborn genetic diseases
Intellectual disability
Familial cancer of breast
Melanoma
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Craniosynostosis syndrome
Key Variants
RS112829030
Conflicting classifications of pathogenicity
Deficiency of alpha-mannosidase, MAN2B1-related disorder, Deficiency of alpha-mannosidase
Health Risk
RS117843968
Conflicting classifications of pathogenicity
Deficiency of alpha-mannosidase, MAN2B1-related disorder, Deficiency of alpha-mannosidase
Health Risk
RS117880912
Conflicting classifications of pathogenicity
Deficiency of alpha-mannosidase, Thyroid cancer, nonmedullary
Health Risk
RS121434333
Conflicting classifications of pathogenicity
Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
Health Risk
RS1369134650
Conflicting classifications of pathogenicity
Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
Health Risk
RS1376771729
Conflicting classifications of pathogenicity
Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
Health Risk
RS139041112
Conflicting classifications of pathogenicity
Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
Health Risk
RS139218045
Conflicting classifications of pathogenicity
Deficiency of alpha-mannosidase, MAN2B1-related disorder, Deficiency of alpha-mannosidase
Health Risk
RS139281846
Conflicting classifications of pathogenicity
Deficiency of alpha-mannosidase, MAN2B1-related disorder, Deficiency of alpha-mannosidase
Health Risk
RS139435774
Conflicting classifications of pathogenicity
Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
Health Risk
RS141212446
Conflicting classifications of pathogenicity
Deficiency of alpha-mannosidase, MAN2B1-related disorder, Deficiency of alpha-mannosidase
Health Risk
RS141276889
Conflicting classifications of pathogenicity
Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
Health Risk
All Variants (367)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS754014741 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS756680048 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS763100457 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Deficiency of alpha-mannosidase, Inborn genetic diseases |
| RS763257568 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of alpha-mannosidase, MAN2B1-related disorder, Deficiency of alpha-mannosidase |
| RS767323371 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS771479314 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS772108001 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS774791244 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS778554304 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS779769525 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS781291011 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS786204715 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS797044680 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS80338679 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS80338681 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of alpha-mannosidase, MAN2B1-related disorder, Deficiency of alpha-mannosidase |
| RS864621994 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS938576591 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |