BCS1L

BCYRN1P1 (Brain Cytoplasmic RNA 1, Pseudogene 1) is a Pseudogene.

Full Name

BCS1 Homolog, Ubiquinol-Cytochrome C Reductase Complex Chaperone

Function

Chaperone necessary for the assembly of mitochondrial respiratory chain complex III. Plays an important role in the maintenance of mitochondrial tubular networks, respiratory chain assembly and formation of the LETM1 complex.

Biological Process

Mitochondrial cytochrome c oxidase assembly Source: UniProtKB
Mitochondrial respiratory chain complex I assembly Source: UniProtKB
Mitochondrial respiratory chain complex III assembly Source: UniProtKB
Mitochondrion organization Source: UniProtKB
Protein insertion into mitochondrial inner membrane from matrix Source: GO_Central

Cellular Location

Mitochondrion inner membrane

Involvement in disease

GRACILE syndrome (GRACILE): 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.
Mitochondrial complex III deficiency, nuclear 1 (MC3DN1): A disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance.
Bjoernstad syndrome (BJS): An autosomal recessive disease characterized by congenital sensorineural hearing loss and twisted hairs (pili torti). Pili torti is 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.

Topology

Mitochondrial intermembrane: 2-15 aa
Helical: 16-32 aa
Mitochondrial matrix: 33-419 aa