SCO2
Chr 22ARADsynthesis of cytochrome C oxidase 2
Also known as: CEMCOX1, ECGF1, Gliostatin, MC4DN2, MYP6, PD-ECGF, SCO1L, TP
SCO2 encodes a metallochaperone essential for the assembly of cytochrome c oxidase subunit II, which is required for mitochondrial complex IV function and aerobic ATP production. Mutations cause mitochondrial complex IV deficiency with fatal infantile encephalocardiomyopathy and myopia 6, inherited in autosomal recessive and autosomal dominant patterns. The pathogenic mechanism involves impaired cytochrome c oxidase assembly leading to defective mitochondrial respiratory chain function.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SCO2 · 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