C10ORF53
Chr 10chromosome 10 open reading frame 53
The protein encoded by this gene functions in mitochondrial ribosome assembly and is essential for mitochondrial protein synthesis. Mutations cause autosomal recessive mitochondrial complex I deficiency with early-onset encephalomyopathy, developmental delay, and seizures. The gene shows moderate constraint against loss-of-function variants, and affected children typically present in infancy with neurological and muscular manifestations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
92 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 | — | — | — | — | 37 |
Likely Pathogenic | — | — | — | — | 21 |
VUS | — | — | — | — | 32 |
Likely Benign | — | — | — | — | 0 |
Benign | — | — | — | — | 0 |
| Total | — | 90 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
C10ORF53 · 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