COX15 Polyclonal Antibody

disease:Defects in COX15 are a cause of cytochrome c oxidase deficiency (COX deficiency) [MIM:220110]. COX deficiency is a clinically heterogeneous disorder. The clinical features range from isolated myopathy to severe multisystem disease with onset from infancy to adulthood.,disease:Defects in COX15 are a cause of Leigh syndrome [MIM:256000]. Leigh syndrome is an early-onset progressive neurodegenerative disorder characterized by delayed onset of symptoms, hypotonia, feeding difficulties, failure to thrive, motor regression and brainstem signs. Diagnosis is confirmed by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord.,function:May be involved in the biosynthesis of heme A.,pathway:Porphyrin metabolism; heme A biosynthesis; heme A from heme O: step 1/1.,similarity:Belongs to the COX15/ctaA family.,tissue specificity:Predominantly found in tissues characterized by high rates of oxidative phosphorylation (OxPhos), including muscle, heart, and brain.,