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Highest antigen sequence indentity to the following orthologs: Mouse (64%), Rat (64%).
This recombinant protein control fragment may be used for blocking experiments with the corresponding antibody, PA5-56900. In IHC/ICC and WB experiments, we recommend a 100x molar excess of the protein fragment control based on the concentration and the molecular weight. Pre-incubate the antibody-protein control fragment mixture for 30 min at room temperature.
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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蛋白别名: COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor; COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase; 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
基因别名: COX10
UniProt ID: (Human) Q12887
Entrez Gene ID: (Human) 1352