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

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

rs121908572 in ZNF142;BCS1L gene and GRACILE SYNDROME (disorder) PMID 23892085 2013 Severe renal tubulopathy in a newborn due to BCS1L gene mutation: effects of different treatment modalities on the clinical course.

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

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

PMID 24655110 2014 Here we report that a homozygous mutation c.296C > T (p.P99L), in the first exon of BCS1L gene found in an affected 2-month-old boy of asymptomatic consanguineous parents results in GRACILE syndrome.

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

PMID 20518024 2010 Cellular pathophysiological consequences of BCS1L mutations in mitochondrial complex III enzyme deficiency.

PMID 22277166 2012 BCS1L gene mutation presenting with GRACILE-like syndrome and complex III deficiency.

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

rs121908572 in ZNF142;BCS1L gene and MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 PMID 11528392 2001 A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.

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

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

PMID 19162478 2009 Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient.

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

rs377025174 in ZNF142;BCS1L gene and Movement Disorders 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.

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.

rs121908579 in ZNF142;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.