| DOT Name |
Cytochrome c oxidase subunit 6A2, mitochondrial (COX6A2)
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| Synonyms |
Cytochrome c oxidase polypeptide VIa-heart; COXVIAH; Cytochrome c oxidase subunit VIA-muscle; COX VIa-M |
| Gene Name |
COX6A2
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| Related Disease |
- Cytochrome-c oxidase deficiency disease ( )
- Mitochondrial complex 4 deficiency, nuclear type 18 ( )
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| UniProt ID |
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| 3D Structure |
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| Pfam ID |
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| Sequence |
MALPLRPLTRGLASAAKGGHGGAGARTWRLLTFVLALPSVALCTFNSYLHSGHRPRPEFR
PYQHLRIRTKPYPWGDGNHTLFHNSHVNPLPTGYEHP
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| Function |
Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Electrons originating from reduced cytochrome c in the intermembrane space (IMS) are transferred via the dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunit 1 to the active site in subunit 1, a binuclear center (BNC) formed by heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2 water molecules unsing 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix. Plays a role in the assembly and stabilization of complex IV.
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| Tissue Specificity |
Expressed specifically in heart and muscle . Not detected in brain, colon, spleen, kidney, liver, lung and pancreas . |
| KEGG Pathway |
- Oxidative phosphorylation (hsa00190 )
- Metabolic pathways (hsa01100 )
- Cardiac muscle contraction (hsa04260 )
- Thermogenesis (hsa04714 )
- Non-alcoholic fatty liver disease (hsa04932 )
- Alzheimer disease (hsa05010 )
- Parkinson disease (hsa05012 )
- Amyotrophic lateral sclerosis (hsa05014 )
- Huntington disease (hsa05016 )
- Prion disease (hsa05020 )
- Pathways of neurodegeneration - multiple diseases (hsa05022 )
- Chemical carcinogenesis - reactive oxygen species (hsa05208 )
- Diabetic cardiomyopathy (hsa05415 )
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