C4ORF50
Chr 4chromosome 4 open reading frame 50
The protein encoded by this gene functions as a component of the mitochondrial ribosome, specifically involved in mitochondrial protein synthesis. Mutations cause autosomal recessive mitochondrial disorders including combined oxidative phosphorylation deficiency and Perrault syndrome, typically presenting with sensorineural hearing loss and neurological features. This gene shows low constraint against loss-of-function variants, consistent with its recessive inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
101 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 | — | — | — | — | 84 |
Likely Pathogenic | — | — | — | — | 5 |
VUS | — | — | — | — | 6 |
Likely Benign | — | — | — | — | 4 |
Benign | — | — | — | — | 1 |
Conflicting | — | 1 | |||
| Total | — | 101 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
C4ORF50 · 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