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Gene : COX20 Homo sapiens

Name  ? cytochrome c oxidase assembly factor COX20 Cytological Location  1q44
Brief Description  cytochrome c oxidase assembly factor COX20
Description  This gene encodes a protein that plays a role in the assembly of cytochrome C oxidase, an important component of the respiratory pathway. It contains two transmembrane helices and localizes to the mitochondrial membrane. Mutations in this gene can cause mitochondrial complex IV deficiency, which results in ataxia and muscle hypotonia. There are multiple pseudogenes for this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
  • synonyms:
  • HGNC:26970,
  • COX20 Cox2 chaperone homolog (S. cerevisiae),
  • MC4DN11,
  • FLJ43269,
  • family with sequence similarity 36, member A,
  • OTTHUMG00000040401,
  • FAM36A,
  • NM_198076,
  • uc001iar.5,
  • BC062419,
  • COX20, cytochrome c oxidase assembly factor,
  • FAM36A,
  • COX20
  • identifiers:
  • 116228,
  • ENSG00000203667,
  • COX20

Genome feature

Region: gene ? Length: 9758  
Location: 1:244835306-244845063 Cyto location: 1q44

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



130 SNPs

5 Cross References

17 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results