| Type: | Family | Name: | Mitochondrial chaperone BCS1 |
| Description: | Mitochondrial chaperone BCS1 is a chaperone necessary for the assembly of mitochondrial respiratory chain complex III [].Defects in BCS1L are the cause of GRACILE syndrome (GRACILE), Bjoernstad syndrome (BJS) and mitochondrial complex III deficiency (MT-C3D). GRACILE stands for 'growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death' []. BJS is an autosomal recessive condition characterised by sensorineural hearing loss and pili torti []. MT-C3D is a disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected []. | Short Name: | BCS1 |
