COX6A1

COX6A1
Identifiers
Aliases	COX6A1, COX6A, COX6AL, CMTRID, cytochrome c oxidase subunit 6A1
External IDs	OMIM: 602072; MGI: 103099; HomoloGene: 3219; GeneCards: COX6A1; OMA:COX6A1 - orthologs
Gene location (Human)
Chr.	Chromosome 12 (human)
End	120,440,737 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	115,487,040 bp
RNA expression pattern
	Top expressed in
	prefrontal cortex; ; primary visual cortex; ; Amygdala; ; dorsolateral prefrontal cortex; ; Brodmann area 9; ; substantia nigra; ; superior frontal gyrus; ; hippocampus proper; ; anterior cingulate cortex; ; right frontal lobe;
	Top expressed in
	migratory enteric neural crest cell; ; facial motor nucleus; ; condyle; ; tunica adventitia of aorta; ; Paneth cell; ; endocardial cushion; ; fossa; ; substantia nigra; ; epithelium of stomach; ; atrioventricular valve;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	cytochrome-c oxidase activity; enzyme regulator activity;
Cellular component	membrane; mitochondrial inner membrane; mitochondrion; mitochondrial respiratory chain complex IV; integral component of membrane;
Biological process	generation of precursor metabolites and energy; proton transmembrane transport; mitochondrial electron transport, cytochrome c to oxygen; aerobic respiration; regulation of catalytic activity; electron transport chain;
	Sources:Amigo / QuickGO
Orthologs
	1337
	12861
	ENSG00000111775
	ENSMUSG00000041697
	P12074
	P43024
	NM_004373
	NM_007748
	NP_004364; NP_004364.2
	NP_031774
	Wikidata
View/Edit Human	View/Edit Mouse

Cytochrome c oxidase subunit 6A1, mitochondrial is a protein that in humans is encoded by the COX6A1 gene. Cytochrome c oxidase 6A1 is a subunit of the cytochrome c oxidase complex, also known as Complex IV, the last enzyme in the mitochondrial electron transport chain. A mutation of the COX6A1 gene is associated with a recessive axonal or mixed form of Charcot-Marie-Tooth disease.