NP_080060.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Related Accession #
Molecular Weight
47,406 Da
NCBI Official Full Name
mitochondrial chaperone BCS1
NCBI Official Synonym Full Names
BCS1-like (yeast)
NCBI Protein Information
mitochondrial chaperone BCS1; BCS1-like protein
UniProt Protein Name
Mitochondrial chaperone BCS1
UniProt Synonym Protein Names
BCS1-like protein
UniProt Entry Name
BCS1_MOUSE
NCBI Summary for BCS1L
The protein encoded by this gene is a chaperone protein that is involved in the assembly of complex III (CIII), one of the five protein complexes of the mitochondrial respiratory chain, and is necessary for the insertion of the Rieske iron-sulfur (RISP) and Qcr10p proteins into the precomplex. Studies from the yeast ortholog of this protein indicate that it is targeted to the inner membrane of the mitochondria, despite the absence of an N-terminal targeting sequence. Positively charged amino acids located C-terminal to the transmembrane domain are thought to act as an internal targeting signal (PMID:8599931). Mutations in the human ortholog of this gene have been associated with GRACILE syndrome, characterized by Growth retardation, Amino aciduria, Cholestasis, Iron overload, Lactic acidosis, and Early death. Mouse models with the corresponding mutation mimic the phenotype of GRACILE syndrome and display decreased complex III activity and decreased electron transport capacity (PMID:21274865). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]
UniProt Comments for BCS1L
BCS1L: 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. Defects in BCS1L are the cause of 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. Defects in BCS1L are a cause of mitochondrial complex III deficiency (MT-C3D). 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. Defects in BCS1L are the cause of Bjoernstad syndrome (BJS). 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. Belongs to the AAA ATPase family. BCS1 subfamily.
Protein type: Chaperone; Membrane protein, integral; Mitochondrial
Cellular Component: membrane; mitochondrion; mitochondrial inner membrane; integral to membrane
Molecular Function: nucleotide binding; ATP binding
Biological Process: mitochondrial respiratory chain complex I assembly; mitochondrion organization and biogenesis; mitochondrial respiratory chain complex IV assembly
Research Articles on BCS1L
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Diseases associated with BCS1L elisa kit
Organs/Tissues associated with BCS1L elisa kit
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