DHRSX
Chr YARdehydrogenase/reductase X-linked
Also known as: CDG1DD, CXorf11, DHRS5X, DHRS5Y, DHRSXY, DHRSY, SDR46C1, SDR7C6
DHRSX encodes an oxidoreductase that catalyzes key steps in dolichol biosynthesis, functioning as both a NAD(+)-dependent dehydrogenase and NADPH-dependent reductase to convert polyprenol to dolichol for protein N-linked glycosylation. Mutations cause congenital disorder of glycosylation type 1DD with pseudoautosomal recessive inheritance. The gene shows tolerance to loss-of-function variants (LOEUF 1.197), suggesting reduced penetrance or variable expressivity may occur.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
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.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
DHRSX · 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
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools