COX18, cytochrome c oxidase assembly factor
COX18 is a protein that in humans is encoded by the COX18 gene. This protein is involved in the assembly of cytochrome c oxidase, which is the terminal enzyme of the mitochondrial electron transport chain.
Function[edit | edit source]
COX18 is a crucial component in the biogenesis of cytochrome c oxidase (COX), also known as Complex IV of the electron transport chain. It is specifically involved in the insertion of copper into the heme a3-CuB center of the enzyme complex. This process is essential for the proper functioning of the oxidative phosphorylation pathway, which is responsible for the production of ATP in aerobic respiration.
Clinical significance[edit | edit source]
Mutations in the COX18 gene can lead to mitochondrial disorders due to impaired cytochrome c oxidase deficiency. This can result in a range of clinical manifestations, including myopathy, encephalopathy, and cardiomyopathy.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
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Contributors: Prab R. Tumpati, MD
