Contents

COQ9

Protein-coding gene in humans

COQ9
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4RHP
Identifiers
Aliases	COQ9, C16orf49, COQ10D5, coenzyme Q9
External IDs	OMIM: 612837; MGI: 1915164; HomoloGene: 6477; GeneCards: COQ9; OMA:COQ9 - orthologs
Gene location (Human) Chr. Chromosome 16 (human)[1] Band 16q21 Start 57,447,425 bp[1] End 57,461,270 bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8|8 C5 Start 95,564,949 bp[2] End 95,581,523 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in apex of heart muscle of thigh gastrocnemius muscle mucosa of transverse colon right auricle rectum muscle layer of sigmoid colon right adrenal cortex right lobe of liver right lobe of thyroid gland Top expressed in myocardium of ventricle sternocleidomastoid muscle digastric muscle interventricular septum triceps brachii muscle cardiac muscle tissue of left ventricle temporal muscle soleus muscle muscle of thigh thoracic diaphragm More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding protein homodimerization activity lipid binding Cellular component mitochondrial inner membrane mitochondrion Biological process ubiquinone biosynthetic process mitochondrial electron transport, NADH to ubiquinone Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 57017 67914 Ensembl ENSG00000088682 ENSMUSG00000031782 UniProt O75208 Q8K1Z0 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
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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]

Function[edit]

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[edit]

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

References[edit]

External links[edit]

• Human COQ9 genome location and COQ9 gene details page in the UCSC Genome Browser.

Further reading[edit]

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

This article on a gene on human chromosome 16 is a stub. You can help Wikipedia by expanding it.