DDOST Chromosome 1
Dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit
Upload your DNA to see your personal genotypes for variants in DDOST.
What This Gene Does
This gene encodes a component of the oligosaccharyltransferase complex which catalyzes the transfer of high-mannose oligosaccharides to asparagine residues on nascent polypeptides in the lumen of the rough endoplasmic reticulum. The protein complex co-purifies with ribosomes. The product of this gene is also implicated in the processing of advanced glycation endproducts (AGEs), which form from non-enzymatic reactions between sugars and proteins or lipids and are associated with aging and hyperglycemia. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Oligosaccharyltransferase complex subunits
Locus Type
gene with protein product
Location
1p36.12
Ensembl
ENSG00000244038
Associated Conditions (2)
Congenital disorder of glycosylation type Ir
DDOST-related disorder
Key Variants
RS1166127455
Conflicting classifications of pathogenicity
Congenital disorder of glycosylation type Ir, Congenital disorder of glycosylation type Ir
Health Risk
RS140102515
Conflicting classifications of pathogenicity
Congenital disorder of glycosylation type Ir, Congenital disorder of glycosylation type Ir
Health Risk
RS145940009
Conflicting classifications of pathogenicity
Congenital disorder of glycosylation type Ir, DDOST-related disorder, Congenital disorder of glycosylation type Ir
Health Risk
RS149951380
Conflicting classifications of pathogenicity
Congenital disorder of glycosylation type Ir, Congenital disorder of glycosylation type Ir
Health Risk
RS201962457
Conflicting classifications of pathogenicity
Congenital disorder of glycosylation type Ir, DDOST-related disorder, Congenital disorder of glycosylation type Ir
Health Risk
RS387906831
Pathogenic
Congenital disorder of glycosylation type Ir, Congenital disorder of glycosylation type Ir
Health Risk
RS587776874
Pathogenic
Congenital disorder of glycosylation type Ir, Congenital disorder of glycosylation type Ir
Health Risk
RS867045420
Pathogenic/Likely pathogenic
Congenital disorder of glycosylation type Ir, Congenital disorder of glycosylation type Ir
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1166127455 | Health Risk | Conflicting classifications of pathogenicity | Congenital disorder of glycosylation type Ir, Congenital disorder of glycosylation type Ir |
| RS140102515 | Health Risk | Conflicting classifications of pathogenicity | Congenital disorder of glycosylation type Ir, Congenital disorder of glycosylation type Ir |
| RS145940009 | Health Risk | Conflicting classifications of pathogenicity | Congenital disorder of glycosylation type Ir, DDOST-related disorder, Congenital disorder of glycosylation type Ir |
| RS149951380 | Health Risk | Conflicting classifications of pathogenicity | Congenital disorder of glycosylation type Ir, Congenital disorder of glycosylation type Ir |
| RS201962457 | Health Risk | Conflicting classifications of pathogenicity | Congenital disorder of glycosylation type Ir, DDOST-related disorder, Congenital disorder of glycosylation type Ir |
| RS387906831 | Health Risk | Pathogenic | Congenital disorder of glycosylation type Ir, Congenital disorder of glycosylation type Ir |
| RS587776874 | Health Risk | Pathogenic | Congenital disorder of glycosylation type Ir, Congenital disorder of glycosylation type Ir |
| RS867045420 | Health Risk | Pathogenic/Likely pathogenic | Congenital disorder of glycosylation type Ir, Congenital disorder of glycosylation type Ir |