COQ9

Last updated
COQ9
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases COQ9 , C16orf49, COQ10D5, coenzyme Q9
External IDs OMIM: 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 Mb Chr 8: 95.56 – 95.58 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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]

Contents

Function

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

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

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000088682 Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000031782 Ensembl, 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. 1 2 "Entrez Gene: coenzyme Q9 homolog (S. cerevisiae)".
  6. Online Mendelian Inheritance in Man (OMIM): 607426

Further reading

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