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The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen and the purity is > 95% (by SDS-PAGE).
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: 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; similar to COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase
Gene Aliases: 2410004F01Rik; AU042636; COX10
UniProt ID: (Human) Q12887, (Mouse) Q8CFY5
Entrez Gene ID: (Human) 1352, (Mouse) 70383, (Rat) 691853
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