SCO2

Chr 22ARAD

synthesis of cytochrome C oxidase 2

Also known as: CEMCOX1, ECGF1, Gliostatin, MC4DN2, MYP6, PD-ECGF, SCO1L, TP

NCBI Gene: 9997 ENSG00000284194 UniProt: O43819 OMIM: 604272

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.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

Cytochrome c oxidase (COX) catalyzes the transfer of electrons from cytochrome c to molecular oxygen, which helps to maintain the proton gradient across the inner mitochondrial membrane that is necessary for aerobic ATP production. Human COX is a multimeric protein complex that requires several assembly factors; this gene encodes one of the COX assembly factors. The encoded protein is a metallochaperone that is involved in the biogenesis of cytochrome c oxidase subunit II. Mutations in this gene are associated with fatal infantile encephalocardiomyopathy and myopia 6. [provided by RefSeq, Oct 2014]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Mitochondrial complex IV deficiency, nuclear type 2MIM #604377

Myopia 6MIM #608908

Clinical highlights

Gene-disease validity (ClinGen)

Leigh syndrome · ARDefinitivesufficient evidence for diagnostic panels3 gene-disease associations curated in total

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.76

LOEUF

LOF

Mechanism· G2P

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GeneReview available — SCO2