ALG12 Chromosome 22
ALG12 alpha-1,6-mannosyltransferase
Upload your DNA to see your personal genotypes for variants in ALG12.
What This Gene Does
This gene encodes a member of the glycosyltransferase 22 family. The encoded protein catalyzes the addition of the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation. Mutations in this gene have been associated with congenital disorder of glycosylation type Ig (CDG-Ig)characterized by abnormal N-glycosylation. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Dolichyl D-mannosyl phosphate dependent mannosyltransferases
Locus Type
gene with protein product
Location
22q13.33
Ensembl
ENSG00000182858
Associated Conditions (5)
ALG12-congenital disorder of glycosylation
ALG12-related disorder
Inborn genetic diseases
Sarcoma
Hepatocellular carcinoma
Key Variants
RS113652023
Conflicting classifications of pathogenicity
ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation
Health Risk
RS117687848
Conflicting classifications of pathogenicity
ALG12-congenital disorder of glycosylation, ALG12-related disorder, ALG12-congenital disorder of glycosylation
Health Risk
RS12163163
Conflicting classifications of pathogenicity
ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation
Health Risk
RS138266806
Conflicting classifications of pathogenicity
ALG12-congenital disorder of glycosylation, Inborn genetic diseases, Sarcoma
Health Risk
RS140835842
Conflicting classifications of pathogenicity
ALG12-congenital disorder of glycosylation, ALG12-related disorder, ALG12-congenital disorder of glycosylation
Health Risk
RS142586266
Conflicting classifications of pathogenicity
ALG12-congenital disorder of glycosylation, Inborn genetic diseases, ALG12-congenital disorder of glycosylation
Health Risk
RS143508665
Conflicting classifications of pathogenicity
ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation
Health Risk
RS149209714
Conflicting classifications of pathogenicity
ALG12-congenital disorder of glycosylation, ALG12-related disorder, Inborn genetic diseases
Health Risk
RS149845730
Conflicting classifications of pathogenicity
ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation
Health Risk
RS150614794
Conflicting classifications of pathogenicity
ALG12-congenital disorder of glycosylation, ALG12-related disorder, ALG12-congenital disorder of glycosylation
Health Risk
RS190345740
Conflicting classifications of pathogenicity
ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation
Health Risk
RS191669043
Conflicting classifications of pathogenicity
ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation
Health Risk
All Variants (65)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2147585338 | Health Risk | Pathogenic | ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation |
| RS2519266617 | Health Risk | Pathogenic | ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation |
| RS2519269328 | Health Risk | Pathogenic | ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation |
| RS2519275435 | Health Risk | Pathogenic | ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation |
| RS2519275907 | Health Risk | Pathogenic | ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation |
| RS563259198 | Health Risk | Pathogenic | ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation |
| RS754565538 | Health Risk | Pathogenic | ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation |
| RS761221480 | Health Risk | Pathogenic | ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation |
| RS768399493 | Health Risk | Pathogenic | ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation |
| RS1206413996 | Health Risk | Pathogenic/Likely pathogenic | ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation |
| RS121907931 | Health Risk | Pathogenic/Likely pathogenic | ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation |
| RS121907932 | Health Risk | Pathogenic/Likely pathogenic | ALG12-congenital disorder of glycosylation, ALG12-related disorder, ALG12-congenital disorder of glycosylation |
| RS759244819 | Health Risk | Pathogenic/Likely pathogenic | ALG12-congenital disorder of glycosylation, Inborn genetic diseases, ALG12-congenital disorder of glycosylation |
| RS762397075 | Health Risk | Pathogenic/Likely pathogenic | ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation |
| RS770711819 | Health Risk | Pathogenic/Likely pathogenic | ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation |