DHDDS
Chr 1ARADdehydrodolichyl diphosphate synthase subunit
The protein encoded by DHDDS forms a complex essential for dolichol biosynthesis, producing the glycosyl carrier lipid required for protein glycosylation in the endoplasmic reticulum. Mutations cause retinitis pigmentosa 59, congenital disorder of glycosylation type 1bb, and developmental delay with seizures and movement abnormalities, with both autosomal recessive and autosomal dominant inheritance patterns reported. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.51), and the associated phenotypes affect multiple systems including vision, neurodevelopment, and protein glycosylation pathways.
Definitive — sufficient evidence for diagnostic panels
Some data sources returned errors (1)
ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
DHDDS · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools