Features include always present findings: Type I transferrin isoform profile, Strabismus, Decreased liver function, and Delayed ability to walk and others.

DDOST encodes dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit (456 aa). 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. Highest expression in Cells Cultured fibroblasts (426.3 TPM) and Cells EBV-transformed lymphocytes (248.3 TPM).

DDOST-congenital disorder of glycosylation has been associated with mutations in the DDOST gene on chromosome 1.

The DDOST protein participates in Transfer of N-glycan to the protein pathway.

DDOST is classified as a druggable target (Druggable Genome and Enzyme categories) with score 0.0.

Genetic testing for DDOST is available. Testing is considered supportive for diagnosis.

Biomarker and diagnostic research for DDOST-congenital disorder of glycosylation has been reported in the published literature.

Phenotype severity distribution: 12 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for DDOST-congenital disorder of glycosylation.

99 publications have been identified in PubMed for DDOST-congenital disorder of glycosylation. Research spans Basic Science / Preclinical (62%), Review / Meta-Analysis (21%), and Case Report / Case Series (6%).