Cytochrome C Oxidase Subunit 3 (MTCO3) ELISA Kit for Mouse

COX3: Subunits I, II and III form the functional core of the enzyme complex. Defects in MT-CO3 are a cause of Leber hereditary optic neuropathy (LHON). LHON is a maternally inherited disease resulting in acute or subacute loss of central vision, due to optic nerve dysfunction. Cardiac conduction defects and neurological defects have also been described in some patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes. Defects in MT-CO3 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. Defects in MT-CO3 are associated with recurrent myoglobinuria mitochondrial (RM-MT). Recurrent myoglobinuria is characterized by recurrent attacks of rhabdomyolysis (necrosis or disintegration of skeletal muscle) associated with muscle pain and weakness, and followed by excretion of myoglobin in the urine. Belongs to the cytochrome c oxidase subunit 3 family.

Protein type: Oxidoreductase; Membrane protein, multi-pass; Mitochondrial; Membrane protein, integral

Cellular Component: integral to membrane; membrane; mitochondrial inner membrane; mitochondrion

Molecular Function: cytochrome-c oxidase activity; heme-copper terminal oxidase activity

Biological Process: aerobic electron transport