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Molecular assay reagents intended to identify deletions or duplications of the SCO2, cytochrome c oxidase assembly protein (SCO2) gene, located at chromosome 22q13.33, which encodes the mitochondrial protein SCO2 homolog. Genetic variants at this locus have been associated with fetal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency and myopia.
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