Species Human Entrez 6341 | Human Mouse Ensembl ENSG00000133028 | |
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Aliases SCO1, SCOD1, SCO1 cytochrome c oxidase assembly protein External IDs MGI: 106362 HomoloGene: 3374 GeneCards: SCO1 | ||
Protein SCO1 homolog, mitochondrial is a protein that in humans is encoded by the SCO1 gene. Mutations in both SCO1 and SCO2 are associated with distinct clinical phenotypes as well as tissue-specific cytochrome c oxidase deficiency. SCO1 localizes predominantly to blood vessels, whereas SCO2 is barely detectable. Expression of SCO2 is also much higher than that of SCO1 in muscle tissue, while SCO1 is expressed at higher levels in liver tissue than SCO2.
Contents
Function
Mammalian cytochrome c oxidase (COX) catalyzes the transfer of reducing equivalents from cytochrome c to molecular oxygen and pumps protons across the inner mitochondrial membrane. In yeast, 2 related COX assembly genes, SCO1 and SCO2 (synthesis of cytochrome c oxidase), enable subunits 1 and 2 to be incorporated into the holoprotein. This gene is the human homolog to the yeast SCO1 gene.
Clinical relevance
Mutation in the SCO1 gene are a cause of mitochondrial complex IV deficiency also known as cytochrome c oxidase deficiency. This disorder affects the mitochondrial respiratory chain resulting in a variety of symptoms, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs. A subset of patients also suffer from Leigh syndrome.
Model organisms
Model organisms have been used in the study of SCO1 function. A conditional knockout mouse line, called Sco1tm1a(KOMP)Wtsi was generated as part of the International Knockout Mouse Consortium program—a high-throughput mutagenesis project to generate and distribute animal models of disease.
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. Twenty two tests were carried out on mutant mice and two significant abnormalities were observed. No homozygous mutant embryos were identified during gestation, and therefore none survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice; no additional significant abnormalities were observed in these animals.