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COX20 gene

Known as: FLJ43269, COX20, S. CEREVISIAE, HOMOLOG OF, FAM36A 
 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
The mitochondrial TMEM177 associates with COX20 during COX2 biogenesis
The three mitochondrial-encoded proteins, COX1, COX2, and COX3, form the core of the cytochrome c oxidase. Upon synthesis, COX2… Expand
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Highly Cited
2014
Highly Cited
2014
Human COX20 cooperates with SCO1 and SCO2 to mature COX2 and promote the assembly of cytochrome c oxidase.
Cytochrome c oxidase (CIV) deficiency is one of the most common respiratory chain defects in patients presenting with… Expand
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2014
2014
Hemiconvulsion–hemiplegia–epilepsy syndrome with 1q44 microdeletion: Causal or chance association
Hemiconvulsion–hemiplegia–epilepsy (HHE) syndrome is a rare syndrome characterized by childhood onset partial motor convulsions… Expand
Highly Cited
2013
Highly Cited
2013
A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.
The mitochondrial respiratory chain complex IV (cytochrome c oxidase) is a multi-subunit enzyme that transfers electrons from… Expand
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2013
2013
Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation
DYTCA is a syndrome that is characterized by predominant dystonia and mild cerebellar ataxia. We examined two affected siblings… Expand
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Highly Cited
2012
Highly Cited
2012
Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures
Patients with a submicroscopic deletion at 1q43q44 present with intellectual disability (ID), microcephaly, craniofacial… Expand
2012
2012
Multiple Roles of the Cox20 Chaperone in Assembly of Saccharomyces cerevisiae Cytochrome c Oxidase
The Cox2 subunit of Saccharomyces cerevisiae cytochrome c oxidase is synthesized in the mitochondrial matrix as a precursor whose… Expand
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Highly Cited
2011
Highly Cited
2011
High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44
Microdeletions of 1q43q44 result in a recognizable clinical disorder characterized by moderate to severe intellectual disability… Expand
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Highly Cited
2010
Highly Cited
2010
Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.
Structural genome aberrations are frequently associated with highly variable congenital phenotypes involving mental retardation… Expand
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Highly Cited
2007
Highly Cited
2007
Substrate Recognition by AAA+ ATPases: Distinct Substrate Binding Modes in ATP-Dependent Protease Yme1 of the Mitochondrial Intermembrane Space
ABSTRACT The energy-dependent proteolysis of cellular proteins is mediated by conserved proteolytic AAA+ complexes. Two such… Expand
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