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Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 2 (heart/muscle isoform) of subunit VIa, and polypeptide 2 is present only in striated muscles. Polypeptide 1 (liver isoform) of subunit VIa is encoded by a different gene, and is found in all non-muscle tissues. These two polypeptides share 66% amino acid sequence identity. [provided by RefSeq, Jul 2008]
COX6A2 (Cytochrome C Oxidase Subunit 6A2) is a Protein Coding gene. Diseases associated with COX6A2 include Mitochondrial Complex Iv Deficiency and Fatal Infantile Cardioencephalomyopathy Due To Cytochrome C Oxidase Deficiency. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Cardiac muscle contraction. Gene Ontology (GO) annotations related to this gene include cytochrome-c oxidase activity. An important paralog of this gene is COX6A1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004129 | contributes_to cytochrome-c oxidase activity | IBA | 21873635 |
GO:0016491 | oxidoreductase activity | IEA | -- |
GO:0030234 | enzyme regulator activity | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IEA | -- |
GO:0005743 | mitochondrial inner membrane | IEA | -- |
GO:0005751 | mitochondrial respiratory chain complex IV | IBA | 21873635 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. |
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2 | Parkinson disease | ||
3 | Cardiac muscle contraction | ||
4 | Metabolism | ||
5 | AMPK Enzyme Complex Pathway |
AMPK Enzyme Complex Pathway
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GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006091 | generation of precursor metabolites and energy | TAS | 9284905 |
GO:0006119 | oxidative phosphorylation | IEA | -- |
GO:0006123 | mitochondrial electron transport, cytochrome c to oxygen | IBA | 21873635 |
GO:0009060 | aerobic respiration | IBA | 21873635 |
GO:0050790 | regulation of catalytic activity | IEA | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | COX6A2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | COX6A2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | COX6A2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Cox6a2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cox6a2 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | COX6A2 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | cox6a2 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | levy 31 |
|
ManyToMany | |
CG30093 31 |
|
ManyToMany | |||
CG14077 31 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | tag-174 31 |
|
OneToMany |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1066280 | CNV | gain | 25217958 |
nsv833194 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
mitochondrial complex iv deficiency |
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fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency |
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