MAN1B1 Chromosome 9
Mannosidase alpha class 1B member 1
Upload your DNA to see your personal genotypes for variants in MAN1B1.
What This Gene Does
This gene encodes an enzyme belonging to the glycosyl hydrolase 47 family. This enzyme functions in N-glycan biosynthesis, and is a class I alpha-1,2-mannosidase that specifically converts Man9GlcNAc to Man8GlcNAc isomer B. It is required for N-glycan trimming to Man5-6GlcNAc2 in the endoplasmic-reticulum-associated degradation pathway. Mutations in this gene cause autosomal-recessive intellectual disability. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 11. [provided by RefSeq, Dec 2011]
Gene Info
Gene Group
Mannosidases alpha class 1
Locus Type
gene with protein product
Location
9q34.3
Ensembl
ENSG00000177239
Associated Conditions (6)
Rafiq syndrome
Intellectual disability
Inborn genetic diseases
MAN1B1-related disorder
See cases
MAN1B1-congenital disorder of glycosylation
Key Variants
RS114057640
Conflicting classifications of pathogenicity
Rafiq syndrome, Intellectual disability, Inborn genetic diseases
Health Risk
RS114484315
Conflicting classifications of pathogenicity
Rafiq syndrome, Inborn genetic diseases, Rafiq syndrome
Health Risk
RS1224834751
Conflicting classifications of pathogenicity
Rafiq syndrome, Rafiq syndrome
Health Risk
RS1225685090
Conflicting classifications of pathogenicity
Rafiq syndrome, Rafiq syndrome
Health Risk
RS138658585
Conflicting classifications of pathogenicity
Rafiq syndrome, Inborn genetic diseases, MAN1B1-related disorder
Health Risk
RS140496149
Conflicting classifications of pathogenicity
Rafiq syndrome, Inborn genetic diseases, Rafiq syndrome
Health Risk
RS142406504
Conflicting classifications of pathogenicity
Rafiq syndrome, Inborn genetic diseases, Rafiq syndrome
Health Risk
RS1430903884
Conflicting classifications of pathogenicity
Rafiq syndrome, Rafiq syndrome
Health Risk
RS145524720
Conflicting classifications of pathogenicity
Rafiq syndrome, Inborn genetic diseases, Rafiq syndrome
Health Risk
RS145704211
Conflicting classifications of pathogenicity
Rafiq syndrome, Inborn genetic diseases, Rafiq syndrome
Health Risk
RS145906530
Conflicting classifications of pathogenicity
Rafiq syndrome, Inborn genetic diseases, Rafiq syndrome
Health Risk
RS146417316
Conflicting classifications of pathogenicity
Rafiq syndrome, Inborn genetic diseases, Rafiq syndrome
Health Risk
All Variants (85)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1405146099 | Health Risk | Likely pathogenic | — |
| RS1564278864 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1831124823 | Health Risk | Likely pathogenic | — |
| RS1831159822 | Health Risk | Likely pathogenic | — |
| RS2130983856 | Health Risk | Likely pathogenic | Rafiq syndrome, Rafiq syndrome |
| RS2131131580 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2538333097 | Health Risk | Likely pathogenic | Rafiq syndrome, Rafiq syndrome |
| RS2538445870 | Health Risk | Likely pathogenic | Rafiq syndrome, Rafiq syndrome |
| RS2538454150 | Health Risk | Likely pathogenic | Rafiq syndrome, Rafiq syndrome |
| RS747045738 | Health Risk | Likely pathogenic | — |
| RS747911434 | Health Risk | Likely pathogenic | — |
| RS797045688 | Health Risk | Likely pathogenic | Rafiq syndrome, Rafiq syndrome |
| RS1158130828 | Health Risk | Pathogenic | Rafiq syndrome, Rafiq syndrome |
| RS1190243291 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1207589187 | Health Risk | Pathogenic | MAN1B1-congenital disorder of glycosylation, Rafiq syndrome, MAN1B1-congenital disorder of glycosylation |
| RS1243024601 | Health Risk | Pathogenic | Rafiq syndrome, Rafiq syndrome |
| RS1377102705 | Health Risk | Pathogenic | Rafiq syndrome, Rafiq syndrome |
| RS1419259096 | Health Risk | Pathogenic | Rafiq syndrome, Rafiq syndrome |
| RS1564281411 | Health Risk | Pathogenic | Rafiq syndrome, Rafiq syndrome |
| RS1564281463 | Health Risk | Pathogenic | Rafiq syndrome, Rafiq syndrome |
| RS1564311909 | Health Risk | Pathogenic | Rafiq syndrome, Rafiq syndrome |
| RS1830422749 | Health Risk | Pathogenic | Rafiq syndrome, Rafiq syndrome |
| RS1830815799 | Health Risk | Pathogenic | Rafiq syndrome, Rafiq syndrome |
| RS1831100789 | Health Risk | Pathogenic | Rafiq syndrome, Rafiq syndrome |
| RS1831100970 | Health Risk | Pathogenic | Rafiq syndrome, Rafiq syndrome |
| RS2130986124 | Health Risk | Pathogenic | Rafiq syndrome, Rafiq syndrome |
| RS2538317999 | Health Risk | Pathogenic | Rafiq syndrome, Rafiq syndrome |
| RS2538339133 | Health Risk | Pathogenic | Rafiq syndrome, Rafiq syndrome |
| RS747262065 | Health Risk | Pathogenic | Rafiq syndrome, Rafiq syndrome |
| RS753503405 | Health Risk | Pathogenic | Rafiq syndrome, MAN1B1-related disorder, Rafiq syndrome |
| RS794729645 | Health Risk | Pathogenic | Rafiq syndrome, Rafiq syndrome |
| RS937318545 | Health Risk | Pathogenic | Rafiq syndrome, Rafiq syndrome |
| RS1382373816 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Rafiq syndrome, Inborn genetic diseases |
| RS745337581 | Health Risk | Pathogenic/Likely pathogenic | Rafiq syndrome, Rafiq syndrome |
| RS780414810 | Health Risk | Pathogenic/Likely pathogenic | Rafiq syndrome, Rafiq syndrome |