COX8A information

COX8A
Identifiers
Aliases	COX8A, COX, COX8, COX8-2, COX8L, VIII, VIII-L, cytochrome c oxidase subunit 8A, MC4DN15
External IDs	OMIM: 123870; MGI: 105959; HomoloGene: 3006; GeneCards: COX8A; OMA:COX8A - orthologs
Gene location (Human)
Chr.	Chromosome 11 (human)
End	63,976,543 bp
Gene location (Mouse)
Chr.	Chromosome 19 (mouse)
End	7,194,981 bp
RNA expression pattern
	Top expressed in
	apex of heart; ; mucosa of transverse colon; ; left ventricle; ; right auricle; ; renal medulla; ; myocardium of left ventricle; ; gastrocnemius muscle; ; muscle of thigh; ; human kidney; ; right ventricle;
	Top expressed in
	right kidney; ; superior frontal gyrus; ; primary visual cortex; ; dentate gyrus of hippocampal formation granule cell; ; cerebellar cortex; ; yolk sac; ; granulocyte; ; embryo; ; embryo; ; pyloric antrum;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein binding; cytochrome-c oxidase activity;
Cellular component	integral component of membrane; mitochondrial inner membrane; mitochondrion; mitochondrial respiratory chain complex IV; membrane; respiratory chain complex IV;
Biological process	generation of precursor metabolites and energy; mitochondrial electron transport, cytochrome c to oxygen; proton transmembrane transport; electron transport chain;
	Sources:Amigo / QuickGO
Orthologs
	1351
	12868
	ENSG00000176340
	ENSMUSG00000035885
	P10176
	Q64445
	NM_004074
	NM_007750
	NP_004065
	NP_031776
	Wikidata
View/Edit Human	View/Edit Mouse

Cytochrome c oxidase subunit 8A (COX8A) is a protein that in humans is encoded by the COX8A gene.^[5] Cytochrome c oxidase 8A is a subunit of the cytochrome c oxidase complex, also known as Complex IV. Mutations in the COX8A gene have been associated with complex IV deficiency with Leigh syndrome and epilepsy.^[6]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000176340 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000035885 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: Cytochrome c oxidase subunit VIIIA (ubiquitous)".
^ Hallmann K, Kudin AP, Zsurka G, Kornblum C, Reimann J, Stüve B, Waltz S, Hattingen E, Thiele H, Nürnberg P, Rüb C, Voos W, Kopatz J, Neumann H, Kunz WS (February 2016). "Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy". Brain. 139 (Pt 2): 338–45. doi:10.1093/brain/awv357. PMID 26685157.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000176340 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000035885 – 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.

[entrez-5] "Entrez Gene: Cytochrome c oxidase subunit VIIIA (ubiquitous)".

[:0-6] Hallmann K, Kudin AP, Zsurka G, Kornblum C, Reimann J, Stüve B, Waltz S, Hattingen E, Thiele H, Nürnberg P, Rüb C, Voos W, Kopatz J, Neumann H, Kunz WS (February 2016). "Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy". Brain. 139 (Pt 2): 338–45. doi:10.1093/brain/awv357. PMID 26685157.

COX8A information

and 4 Related for: COX8A information

COX8A

Cytochrome c oxidase

Mitochondrial myopathy

Housekeeping gene