BCS1L 항체 (SS-M13): sc-134280

BCS1L Antibody (SS-M13) is a high quality monoclonal BCS1L antibody (also designated BCS1L antibody) suitable for the detection of the BCS1L protein of human origin. BCS1L Antibody (SS-M13) is available as the non-conjugated anti-BCS1L antibody. Hepatic involvement is a common feature in childhood mitochondrial hepatopathies, particularly in the neonatal period. Respiratory chain disorders may present as neonatal acute liver failure, hepatic steatohepatitis, cholestasis, or cirrhosis with chronic liver failure of insidious onset. GRACILE (growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death) syndrome is a recessively inherited lethal disease characterized by fetal growth retardation, lactic acidosis, aminoaciduria, cholestasis, and abnormalities in iron metabolism. GRACILE syndrome is the result of mutations in BCS1L, a mitochondrial inner-membrane protein that acts as a chaperone necessary for the assembly of mitochondrial respiratory chain complex III. Mutations in BCS1L can also result in the Björnstad syndrome, an autosomal recessive disorder associated with sensorineural hearing loss and pili torti. All mutant BCS1L proteins disrupt the assembly of complex III, reduce the activity of the mitochondrial electron-transport chain and increase the production of reactive oxygen species. Clinical expression of the mutations is correlated with the production of reactive oxygen species.