SCO1
Chr 17ARsynthesis of cytochrome C oxidase 1
The protein functions as a copper metallochaperone essential for assembly of cytochrome c oxidase (complex IV) by facilitating incorporation of subunits 1 and 2 into the holoenzyme within the mitochondrial inner membrane. Mutations cause mitochondrial complex IV deficiency with autosomal recessive inheritance through a predicted dominant-negative mechanism. The low pLI score indicates tolerance to heterozygous loss-of-function variants, consistent with the recessive inheritance pattern.
Definitive — sufficient evidence for diagnostic panels
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SCO1 · 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