COX7B
Cytochrome c oxidase subunit 7B, mitochondrial (COX7B) is a protein that in humans is encoded by the COX7B gene.
Function[edit | edit source]
Cytochrome c oxidase (COX), also known as complex IV, is a component of the electron transport chain in mitochondria. It is the last enzyme in the respiratory electron transport chain of mitochondrial oxidative phosphorylation. COX catalyzes the transfer of electrons from reduced cytochrome c to molecular oxygen, a process that contributes to the generation of a proton gradient across the inner mitochondrial membrane. This proton gradient is used by ATP synthase to produce ATP, the energy currency of the cell.
The COX7B protein is one of the nuclear-encoded subunits of cytochrome c oxidase. It is involved in the assembly and stability of the COX complex.
Clinical significance[edit | edit source]
Mutations in the COX7B gene have been associated with mitochondrial complex IV deficiency, a condition that can lead to a variety of clinical manifestations, including encephalomyopathy, cardiomyopathy, and exercise intolerance.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
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Contributors: Prab R. Tumpati, MD