ALG11 Chromosome 13
ALG11 alpha-1,2-mannosyltransferase
Upload your DNA to see your personal genotypes for variants in ALG11.
What This Gene Does
This gene encodes a GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase which is localized to the cytosolic side of the endoplasmic reticulum (ER) and catalyzes the transfer of the fourth and fifth mannose residue from GDP-mannose (GDP-Man) to Man3GlcNAc2-PP-dolichol and Man4GlcNAc2-PP-dolichol resulting in the production of Man5GlcNAc2-PP-dolichol. Mutations in this gene are associated with congenital disorder of glycosylation type Ip (CDGIP). This gene overlaps but is distinct from the UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) gene. A pseudogene of the GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase has been identified on chromosome 19. [provided by RefSeq, Aug 2010]
Gene Info
Gene Group
Glycosyl transferases group 1 domain containing
Locus Type
gene with protein product
Location
13q14.3
Ensembl
ENSG00000253710
Associated Conditions (4)
ALG11-congenital disorder of glycosylation
Inborn genetic diseases
Seizure
ALG11-related disorder
Key Variants
RS1064794465
Conflicting classifications of pathogenicity
ALG11-congenital disorder of glycosylation, ALG11-congenital disorder of glycosylation
Health Risk
RS147711581
Conflicting classifications of pathogenicity
ALG11-congenital disorder of glycosylation, ALG11-congenital disorder of glycosylation
Health Risk
RS200751186
Conflicting classifications of pathogenicity
ALG11-congenital disorder of glycosylation, ALG11-congenital disorder of glycosylation
Health Risk
RS202195109
Conflicting classifications of pathogenicity
ALG11-congenital disorder of glycosylation, Inborn genetic diseases, ALG11-congenital disorder of glycosylation
Health Risk
RS369694921
Conflicting classifications of pathogenicity
ALG11-congenital disorder of glycosylation, ALG11-congenital disorder of glycosylation
Health Risk
RS398123525
Conflicting classifications of pathogenicity
ALG11-congenital disorder of glycosylation, ALG11-congenital disorder of glycosylation
Health Risk
RS770392960
Conflicting classifications of pathogenicity
Health Risk
RS1064795802
Likely pathogenic
ALG11-congenital disorder of glycosylation, ALG11-congenital disorder of glycosylation
Health Risk
RS1064795803
Likely pathogenic
ALG11-congenital disorder of glycosylation, ALG11-congenital disorder of glycosylation
Health Risk
RS1204420316
Likely pathogenic
ALG11-congenital disorder of glycosylation, ALG11-congenital disorder of glycosylation
Health Risk
RS1291722156
Likely pathogenic
ALG11-congenital disorder of glycosylation, ALG11-congenital disorder of glycosylation
Health Risk
RS2140840645
Likely pathogenic
ALG11-congenital disorder of glycosylation, ALG11-congenital disorder of glycosylation
Health Risk
All Variants (23)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1064794465 | Health Risk | Conflicting classifications of pathogenicity | ALG11-congenital disorder of glycosylation, ALG11-congenital disorder of glycosylation |
| RS147711581 | Health Risk | Conflicting classifications of pathogenicity | ALG11-congenital disorder of glycosylation, ALG11-congenital disorder of glycosylation |
| RS200751186 | Health Risk | Conflicting classifications of pathogenicity | ALG11-congenital disorder of glycosylation, ALG11-congenital disorder of glycosylation |
| RS202195109 | Health Risk | Conflicting classifications of pathogenicity | ALG11-congenital disorder of glycosylation, Inborn genetic diseases, ALG11-congenital disorder of glycosylation |
| RS369694921 | Health Risk | Conflicting classifications of pathogenicity | ALG11-congenital disorder of glycosylation, ALG11-congenital disorder of glycosylation |
| RS398123525 | Health Risk | Conflicting classifications of pathogenicity | ALG11-congenital disorder of glycosylation, ALG11-congenital disorder of glycosylation |
| RS770392960 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1064795802 | Health Risk | Likely pathogenic | ALG11-congenital disorder of glycosylation, ALG11-congenital disorder of glycosylation |
| RS1064795803 | Health Risk | Likely pathogenic | ALG11-congenital disorder of glycosylation, ALG11-congenital disorder of glycosylation |
| RS1204420316 | Health Risk | Likely pathogenic | ALG11-congenital disorder of glycosylation, ALG11-congenital disorder of glycosylation |
| RS1291722156 | Health Risk | Likely pathogenic | ALG11-congenital disorder of glycosylation, ALG11-congenital disorder of glycosylation |
| RS2140840645 | Health Risk | Likely pathogenic | ALG11-congenital disorder of glycosylation, ALG11-congenital disorder of glycosylation |
| RS376678620 | Health Risk | Likely pathogenic | ALG11-congenital disorder of glycosylation, ALG11-congenital disorder of glycosylation |
| RS886039306 | Health Risk | Likely pathogenic | — |
| RS921941078 | Health Risk | Likely pathogenic | ALG11-congenital disorder of glycosylation, ALG11-congenital disorder of glycosylation |
| RS2547343671 | Health Risk | Pathogenic | Seizure, Seizure |
| RS267606652 | Health Risk | Pathogenic | ALG11-congenital disorder of glycosylation, ALG11-congenital disorder of glycosylation |
| RS387907182 | Health Risk | Pathogenic | ALG11-congenital disorder of glycosylation, ALG11-congenital disorder of glycosylation |
| RS387907184 | Health Risk | Pathogenic | ALG11-congenital disorder of glycosylation, ALG11-congenital disorder of glycosylation |
| RS748982784 | Health Risk | Pathogenic | ALG11-congenital disorder of glycosylation, ALG11-congenital disorder of glycosylation |
| RS886041534 | Health Risk | Pathogenic | — |
| RS387907180 | Health Risk | Pathogenic/Likely pathogenic | ALG11-congenital disorder of glycosylation, ALG11-related disorder, ALG11-congenital disorder of glycosylation |
| RS387907181 | Health Risk | Pathogenic/Likely pathogenic | ALG11-congenital disorder of glycosylation, ALG11-related disorder, ALG11-congenital disorder of glycosylation |