NUS1
Chr 6ARADNUS1 dehydrodolichyl diphosphate synthase subunit
Also known as: C6orf68, CDG1AA, MGC:7199, MRD55, NgBR, TANGO14
This protein is essential for dolichol synthesis and protein glycosylation as a subunit of cis-prenyltransferase in the endoplasmic reticulum. Mutations cause congenital disorder of glycosylation type 1aa and intellectual developmental disorder with seizures through loss-of-function mechanisms. The condition follows both autosomal recessive and autosomal dominant inheritance patterns.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NUS1 · 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