RTN4IP1
Chr 6ARreticulon 4 interacting protein 1
Also known as: NIMP, OPA10, Yim1
RTN4IP1 encodes a mitochondrial NAD(P)H oxidoreductase required for ubiquinone biosynthesis and COQ3 O-methyltransferase activity, and may regulate retinal ganglion cell neurite outgrowth. Biallelic mutations cause autosomal recessive optic atrophy 10 with or without ataxia, intellectual disability, and seizures. This gene is extremely intolerant to loss-of-function variants (pLI ~1.0), indicating that heterozygous loss-of-function mutations are likely pathogenic in the general population.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
RTN4IP1 · 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