C2ORF80
Chr 2chromosome 2 open reading frame 80
Also known as: GONDA1
The protein encoded by this gene is involved in mitochondrial function and cellular energy metabolism. Mutations cause autosomal recessive mitochondrial complex IV deficiency, presenting in infancy with severe neurodegeneration, hypotonia, and respiratory failure. This gene shows relatively low constraint against loss-of-function variants compared to other disease genes, 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
41 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 | — | — | — | — | 28 |
Likely Pathogenic | — | — | — | — | 0 |
VUS | — | — | — | — | 11 |
Likely Benign | — | — | — | — | 0 |
Benign | — | — | — | — | 0 |
| Total | — | 39 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
C2ORF80 · 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