The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
WB: 1/500 - 1/1000. Detects a band of approximately 48 kDa (predicted molecular weight: 48 kDa).
Detection Antibody Pair.
Not yet tested in other applications.
Optimal dilutions/concentrations should be determined by the end user.
Converts protoheme IX and farnesyl diphosphate to heme O.
Involvement in disease
Defects in COX10 are a cause of mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]; 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. Defects in COX10 are a cause of Leigh syndrome (LS) [MIM:256000]. LS is a severe neurological disorder characterized by bilaterally symmetrical necrotic lesions in subcortical brain regions.