NDOR1
Chr 9NADPH dependent diflavin oxidoreductase 1
Also known as: CIAE1, NR1, bA350O14.9
The protein is an NADPH-dependent diflavin reductase that serves as a central component of the cytosolic iron-sulfur protein assembly machinery, transferring electrons from NADPH to enable assembly of iron-sulfur cluster proteins. Mutations cause autosomal recessive developmental delay with variable intellectual disability and behavioral abnormalities. This gene is highly constrained against loss-of-function variants, indicating that complete loss of function is likely incompatible with normal development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
The highest-scoring mechanism for this gene is gain-of-function.
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
NDOR1 · 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