Ubiquinone biosynthesis protein COQ9, mitochondrial, also known as coenzyme Q9 homolog (COQ9), is a protein that in humans is encoded by the COQ9 gene.[5]

COQ9
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCOQ9, C16orf49, COQ10D5, coenzyme Q9
External IDsOMIM: 612837; MGI: 1915164; HomoloGene: 6477; GeneCards: COQ9; OMA:COQ9 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_020312

NM_026452

RefSeq (protein)

NP_064708

NP_080728

Location (UCSC)Chr 16: 57.45 – 57.46 MbChr 8: 95.56 – 95.58 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

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This locus represents a mitochondrial ubiquinone biosynthesis gene. The encoded protein is likely necessary for biosynthesis of coenzyme Q10, as mutations at this locus have been associated with autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency.[5]

Clinical significance

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It may be associated with Coenzyme Q10 deficiency.[6]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000088682Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031782Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b "Entrez Gene: coenzyme Q9 homolog (S. cerevisiae)".
  6. ^ Online Mendelian Inheritance in Man (OMIM): 607426
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Further reading

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.