rs201962457
This variant is located in the DDOST gene.
▶ClinVar annotation
Congenital disorder of glycosylation type Ir; DDOST-related disorder; not specified
View on ClinVar →About DDOST
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]
View all DDOST variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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