COX6A2
entrez
1339
canonical
uniprot
Q02221
canonical
ensembl
ENSG00000156885
resolver
ensp
ENSP00000287490
resolver
enst
ENST00000287490
resolver
genesymbol
COX6A2
resolver
genesymbol_syn
COX6A
resolver
genesymbol_syn
COX6AH
resolver
hgnc
HGNC:2279
resolver
uniprot
O00761
resolver
uniprot
Q6GTW6
resolver
uniprot_entry
CX6A2_HUMAN
resolver
uniprot_sec
O00761
resolver
uniprot_sec
Q6GTW6
resolver
amino_acid_sequence
MALPLRPLTRGLASAAKGGHGGAGARTWRLLTFVLALPSVALCTFNSYLHSGHRPRPEFRPYQHLRIRTKPYPWGDGNHTLFHNSHVNPLPTGYEHP
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex IV deficiency, nuclear type 18 (MC4DN18) [MIM:619062]: An autosomal recessive, muscle-specific, mitochondrial disorder with onset in infancy. MC4DN18 is characterized by hypotonia, limb and facial muscle weakness, and high arched palate. Some patients have respiratory insufficiency at birth and cardiomyopathy. Patient skeletal muscle shows decreased levels and activity of mitochondrial respiratory complex IV. {ECO:0000269|PubMed:31155743}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 (PubMed:31155743). {ECO:0000250|UniProtKB:P32799, ECO:0000269|PubMed:31155743}.
uniprot
proteins
mass_dalton
10815
uniprot
proteins
pathway_participation
PATHWAY: Energy metabolism; oxidative phosphorylation. {ECO:0000250|UniProtKB:P32799}.
uniprot
proteins
protein_family
Cytochrome c oxidase subunit 6A family
uniprot
proteins
pubmed
1327966
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
31155743
uniprot
proteins
pubmed
9177785
uniprot
proteins
sequence_length
97
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000250|UniProtKB:P07471}; Single-pass membrane protein {ECO:0000250|UniProtKB:P07471}.
uniprot
proteins
transmembrane_region
TRANSMEM 25..49; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P07471
uniprot
proteins