C8ORF33
Chr 8chromosome 8 open reading frame 33
The C8ORF33 protein functions as a component of the mitochondrial respiratory chain complex I, involved in oxidative phosphorylation and cellular energy production. Mutations cause Leigh syndrome, a severe mitochondrial disorder characterized by progressive neurodegeneration typically beginning in infancy or early childhood. The condition follows autosomal recessive inheritance and primarily affects the central nervous system, though multi-organ involvement can occur.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
C8ORF33 · 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 →External Resources
Links to major genomics databases and tools