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
Gene: ZNF142
Alternate names for this Gene: HA4654|NEDISHM|pHZ-49
Gene Summary: The protein encoded by this gene belongs to the Kruppel family of C2H2-type zinc finger proteins. It contains 31 C2H2-type zinc fingers and may be involved in transcriptional regulation. Alternatively spliced transcript variants have been found for this gene.
Gene is located in Chromosome: 2
Location in Chromosome : 2q35
Description of this Gene: zinc finger protein 142
Type of Gene: protein-coding
rs28937590 in
BCS1L;ZNF142 gene and
GRACILE SYNDROME (disorder)
PMID 12215968 2002 In the present study, we report the molecular defect causing this metabolic disorder, by identifying a homozygous missense mutation that results in an S78G amino acid change in the BCS1L gene in Finnish patients with GRACILE syndrome, as well as five different mutations in three British infants.
PMID 25914718 2015 Nuclear gene mutations as the cause of mitochondrial complex III deficiency.
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.
rs28937590 in
BCS1L;ZNF142 gene and
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
PMID 21274865 2011 The GRACILE mutation introduced into Bcs1l causes postnatal complex III deficiency: a viable mouse model for mitochondrial hepatopathy.
PMID 12215968 2002 GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L.