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Gene : COQ6 Homo sapiens

Name  ? coenzyme Q6, monooxygenase Cytological Location  14q24.3
Brief Description  coenzyme Q6, monooxygenase
Description  The protein encoded by this gene belongs to the ubiH/COQ6 family. It is an evolutionarily conserved monooxygenase required for the biosynthesis of coenzyme Q10 (or ubiquinone), which is an essential component of the mitochondrial electron transport chain, and one of the most potent lipophilic antioxidants implicated in the protection of cell damage by reactive oxygen species. Knockdown of this gene in mouse and zebrafish results in decreased growth due to increased apoptosis. Mutations in this gene are associated with autosomal recessive coenzyme Q10 deficiency-6 (COQ10D6), which manifests as nephrotic syndrome with sensorineural deafness. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2012]
  • synonyms:
  • CGI-10,
  • coenzyme Q6 monooxygenase,
  • uc001xph.4,
  • coenzyme Q6 homolog (yeast),
  • OTTHUMG00000171260,
  • coenzyme Q6 homolog, monooxygenase (S. cerevisiae),
  • coenzyme Q6 homolog, monooxygenase (yeast),
  • COQ6,
  • AF132944,
  • NM_182476,
  • HGNC:20233,
  • CGI-10,
  • CGI10,
  • COQ10D6
  • identifiers:
  • 51004,
  • ENSG00000119723,
  • COQ6

Genome feature

Region: gene ? Length: 13737  
Location: 14:73949934-73963670 Cyto location: 14q24.3


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Gene -> HPO annotation (Human Phenotype Ontology)

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Genomics

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Proteins

Gene --> Proteins.

SNPs

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Disease

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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Expression

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Gene Ontology

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Other

3753 SN Ps

5 Cross References

19 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results