A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia. (Q47074411)

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scientific article published on 2 November 2012

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English	A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.	scientific article published on 2 November 2012

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17 February 2020

A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia (English)

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cytochrome c oxidase assembly factor COX20

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GOA release 2020-03-11

mitochondrial cytochrome c oxidase assembly

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GOA release 2020-03-11

Richard J Rodenburg

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Christian Gilissen

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Joris A Veltman

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Peter H Willems

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Martijn A Huynen

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Leo G J Nijtmans

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Leo G Nijtmans

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Radek Szklarczyk

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Radek Szklarczyk

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Bas F J Wanschers

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Johannes Zschocke

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Nicola Dikow

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Mariël A M van den Brand

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Marthe G M Hendriks-Franssen

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Marco Nooteboom

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Werner J H Koopman

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Jan A M Smeitink

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Lambertus P van den Heuvel

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publication date

2 November 2012

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Human Molecular Genetics

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17 February 2020

NDUFA4 is a subunit of complex IV of the mammalian electron transport chain

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Affinity purification of yeast cytochrome oxidase with biotinylated subunits 4, 5, or 6.

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Biochemical and molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome

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Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene

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SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

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Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

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A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency

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Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy

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Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.

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Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics

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A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy

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Mutations in C12orf62, a factor that couples COX I synthesis with cytochrome c oxidase assembly, cause fatal neonatal lactic acidosis

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The role of the LRPPRC (leucine-rich pentatricopeptide repeat cassette) gene in cytochrome oxidase assembly: mutation causes lowered levels of COX (cytochrome c oxidase) I and COX III mRNA

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Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase

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Isolation of a human cDNA for heme A:farnesyltransferase by functional complementation of a yeast cox10 mutant

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Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency

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Physical interaction and functional coupling between ACDP4 and the intracellular ion chaperone COX11, an implication of the role of ACDP4 in essential metal ion transport and homeostasis

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Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency

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The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis

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Identifiers

10.1093/HMG/DDS473

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17 February 2020

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