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FIGURE: 1 / 3
Please note: We are reviewing Western blot images included in the antibody testing data in our catalog, including those provided by third parties. Unless expressly labeled or annotated as “raw-unedited”, Western blot images included in the antibody testing data in our catalog may have been edited, optimized or otherwise adjusted for presentation.
Defects in COX10 are a cause of mitochondrial complex IV deficiency (MT-C4D); also known as cytochrome c oxidase deficiency. A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs. Features include hypertrophic cardiomyopathy, hepatomegaly and liver dysfunction, hypotonia, muscle weakness, excercise intolerance, developmental delay, delayed motor development and mental retardation. A subset of patients manifest Leigh syndrome.
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Protein Aliases: COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase; COX10, heme A:farnesyltransferase cytochrome c oxidase assembly factor; cytochrome c oxidase assembly homolog 10; cytochrome c oxidase assembly protein; cytochrome c oxidase subunit X; heme A: farnesyltransferase; Heme O synthase; Protoheme IX farnesyltransferase, mitochondrial; unnamed protein product
Gene Aliases: COX10; MC4DN3
Entrez Gene ID: (Human) 1352
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