C18ORF63
Chr 18chromosome 18 open reading frame 63
Also known as: DKFZP781G0119
The protein encoded by this gene functions as a component of the mitochondrial ribosome, specifically participating in mitochondrial protein synthesis. Mutations cause combined oxidative phosphorylation deficiency, which presents as a severe mitochondrial disorder with early-onset neurodegeneration, developmental delay, and multi-system involvement. The condition follows autosomal recessive inheritance, and the gene shows moderate constraint against loss-of-function variants.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
169 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 145 |
Likely Pathogenic | — | — | — | — | 6 |
VUS | — | — | — | — | 17 |
Likely Benign | — | — | — | — | 0 |
Benign | — | — | — | — | 0 |
| Total | — | 168 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
C18ORF63 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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