BCS1 rabbit pAb

disease:Defects in BCS1L are a cause of mitochondrial complex III deficiency (CIII deficiency) [MIM:124000]. CIII deficiency is characterized by congenital lactic acidosis. Patients had severe failure to thrive, liver dysfunction and renal tubulopathy.,disease:Defects in BCS1L are the cause of Bjoernstad syndrome (BJS) [MIM:262000]. BJS is an autosomal recessive condition characterized by sensorineural hearing loss and pili torti. The hearing loss in BJS is congenital and of variable severity. Pili torti (twisted hairs), a condition in which the hair shafts are flattened at irregular intervals and twisted 180 degrees from the normal axis, making the hair extremely brittle, is usually recognized early in childhood.,disease:Defects in BCS1L are the cause of GRACILE syndrome [MIM:603358]. GRACILE stands for 'growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death'. It is a recessively inherited lethal disease characterized by fetal growth retardation, lactic acidosis, aminoaciduria, cholestasis, and abnormalities in iron metabolism.,function:Chaperone necessary for the assembly of mitochondrial respiratory chain complex III.,similarity:Belongs to the AAA ATPase family.,similarity:Belongs to the AAA ATPase family. BCS1 subfamily.,tissue specificity:Ubiquitous.,