C22ORF23
Chr 22chromosome 22 open reading frame 23
Also known as: EVG1, dJ1039K5.6
The protein encoded by this gene functions as a component of the mitochondrial ribosome, specifically participating in mitochondrial protein synthesis. Mutations cause autosomal recessive mitochondrial complex I deficiency, presenting with early-onset neurodegeneration, developmental delay, and multi-organ dysfunction affecting the brain, liver, and skeletal muscle. This gene shows very low constraint against loss-of-function variants in the general population.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
C22ORF23 · 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 →No open access results found
External Resources
Links to major genomics databases and tools