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Gene : COQ2 Homo sapiens

Name  ? coenzyme Q2, polyprenyltransferase Cytological Location  4q21.23
Brief Description  coenzyme Q2, polyprenyltransferase
Description  This gene encodes an enzyme that functions in the final steps in the biosynthesis of CoQ (ubiquinone), a redox carrier in the mitochondrial respiratory chain and a lipid-soluble antioxidant. This enzyme, which is part of the coenzyme Q10 pathway, catalyzes the prenylation of parahydroxybenzoate with an all-trans polyprenyl group. Mutations in this gene cause coenzyme Q10 deficiency, a mitochondrial encephalomyopathy, and also COQ2 nephropathy, an inherited form of mitochondriopathy with primary renal involvement. [provided by RefSeq, Oct 2009]
  • synonyms:
  • PHB:PPT,
  • OTTHUMG00000160940,
  • coenzyme Q2 homolog, prenyltransferase (yeast),
  • MSA1,
  • COQ2,
  • 4-hydroxybenzoate polyprenyltransferase,
  • FLJ26072,
  • NM_015697,
  • CL640,
  • HGNC:25223,
  • CL640,
  • COQ10D1,
  • uc003hog.3
  • identifiers:
  • 27235,
  • ENSG00000173085,
  • COQ2

Genome feature

Region: gene ? Length: 21311  
Location: 4:83263824-83285134 reverse strand Cyto location: 4q21.23


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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Proteins

Gene --> Proteins.

SNPs

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Disease

2 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

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

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Other

0 Pathways

415 SN Ps

5 Cross References

18 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results