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DDOST

Chr 1p36.12

dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit

Aliases:
OST, KIAA0115, OST48, WBP1
MANE:
ENST00000602624.7

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Congenital disorders of glycosylation

    BIALLELIC, autosomal or pseudoautosomal
  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Likely inborn error of metabolism

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • DDOST-congenital disorder of glycosylation

    0.73
  • neurodegenerative disease

    0.54
  • dengue disease

    0.50
  • congenital disorder of glycosylation

    0.37
  • COVID-19

    0.37
  • lysosomal storage disease

    0.37
  • ocular hypertension

    0.32
  • Intellectual disability

    0.12
  • hepatocellular carcinoma

    0.09
  • cervical cancer

    0.07

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit

Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation (PubMed:31831667). N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). All subunits are required for a maximal enzyme activity (By similarity). Required for the assembly of both SST3A- and SS3B-containing OST complexes (PubMed:22467853)

Curated MONDO disease pages that list DDOST among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.