Recombinant Human Cytochrome c oxidase subunit 6A1, mitochondrial (COX6A1), Truncated

Uniprot Id

P12074

Target Species

Human

Target Name

COX6A1

Target Full Name

Cytochrome c oxidase subunit 6A1, mitochondrial

Target 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.

Target Involvement

Charcot-Marie-Tooth disease, recessive, intermediate type, D (CMTRID)

Target Subcellular Location

Mitochondrion inner membrane; Single-pass membrane protein.

Target Protein Families

Cytochrome c oxidase subunit 6A family

Target Synonyms

COX VIa L; COX VIa-L; COX6A; COX6A1; COX6AL; CX6A1_HUMAN; Cytochrome c oxidase polypeptide VIa liver; Cytochrome c oxidase polypeptide VIa-liver; Cytochrome c oxidase subunit 6A1; Cytochrome c oxidase subunit 6A1 mitochondrial; Cytochrome C oxidase subunit VIa homolog; Cytochrome c oxidase subunit VIA liver; Cytochrome c oxidase subunit VIa polypeptide 1; Cytochrome c oxidase subunit VIA-liver; MGC104500; mitochondrial

Target Background

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 the electron transfer and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 1 (liver isoform) of subunit VIa, and polypeptide 1 is found in all non-muscle tissues. Polypeptide 2 (heart/muscle isoform) of subunit VIa is encoded by a different gene, and is present only in striated muscles. These two polypeptides share 66% amino acid sequence identity. It has been reported that there may be several pseudogenes on chromosomes 1, 6, 7q21, 7q31-32 and 12. However, only one pseudogene (COX6A1P) on chromosome 1p31.1 has been documented.