Gene: BCS1L

Alternate names for this Gene: BCS|BCS1|BJS|FLNMS|GRACILE|Hs.6719|MC3DN1|PTD|h-BCS|h-BCS1

Gene Summary: This gene encodes a homolog of the S. cerevisiae bcs1 protein which is involved in the assembly of complex III of the mitochondrial respiratory chain. The encoded protein does not contain a mitochondrial targeting sequence but experimental studies confirm that it is imported into mitochondria. Mutations in this gene are associated with mitochondrial complex III deficiency and the GRACILE syndrome. Several alternatively spliced transcripts encoding two different isoforms have been described.

Gene is located in Chromosome: 2

Location in Chromosome : 2q35

Description of this Gene: BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone

Type of Gene: protein-coding

rs1057516518 in BCS1L gene and GRACILE SYNDROME (disorder) PMID 19285991 2009 Functional analysis of yeast bcs1 mutants highlights the role of Bcs1p-specific amino acids in the AAA domain.

PMID 26489029 2016 Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.

PMID 24236502 2014 A case of Björnstad syndrome caused by novel compound heterozygous mutations in the BCS1L gene.

PMID 12215968 2002 GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L.

PMID 17314340 2007 Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.

PMID 28105683 2017 Novel heterozygous deletion mutation c.821delC in the AAA domain of BCS1L underlies Björnstad syndrome.

PMID 25895478 2015 Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis.

rs121908577 in BCS1L gene and Leigh Disease PMID 25895478 2015 Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis.

PMID 19389488 2009 Pathogenic mutations in the 5' untranslated region of BCS1L mRNA in mitochondrial complex III deficiency.

PMID 25914718 2015 Nuclear gene mutations as the cause of mitochondrial complex III deficiency.

PMID 24172246 2013 Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.

PMID 17314340 2007 Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.

rs144885874 in BCS1L gene and MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder) PMID 17403714 2007 Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.

rs121908571 in BCS1L gene and MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 PMID 19162478 2009 Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient.

PMID 18628306 2008 Characterization of the mitochondrial protein LETM1, which maintains the mitochondrial tubular shapes and interacts with the AAA-ATPase BCS1L.

PMID 17314340 2007 Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.

PMID 12910490 2003 Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene.

PMID 11528392 2001 A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.

PMID 17403714 2007 Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.

PMID 22991165 2013 Clinical and biochemical features associated with BCS1L mutation.

PMID 27959697 2017 Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.

rs1553597538 in BCS1L gene and Movement Disorders PMID 17314340 2007 Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.

PMID 12215968 2002 GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L.

PMID 19508421 2009 Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene.

PMID 17403714 2007 Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.

PMID 11528392 2001 A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.

rs121908577 in BCS1L gene and Pili torti-deafness syndrome PMID 24172246 2013 Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.

PMID 17314340 2007 Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 19389488 2009 Pathogenic mutations in the 5' untranslated region of BCS1L mRNA in mitochondrial complex III deficiency.