COX18, cytochrome c oxidase assembly factor
COX18, Cytochrome c Oxidase Assembly Factor
COX18, cytochrome c oxidase assembly factor is a protein that in humans is encoded by the COX18 gene. This protein is a crucial component in the assembly of cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain.
Function[edit | edit source]
COX18 is involved in the insertion of transmembrane segments of the COX2 subunit into the mitochondrial inner membrane. The COX2 subunit is one of the three mitochondrially-encoded subunits of cytochrome c oxidase. The exact mechanism of action of COX18 is still under investigation, but it is known to be essential for the function of the electron transport chain.
Clinical Significance[edit | edit source]
Mutations in the COX18 gene have been associated with Leigh syndrome, a severe neurological disorder that typically arises in the first year of life. This association suggests that COX18 may have a broader role in neurodevelopment and neurodegeneration.
See Also[edit | edit source]
References[edit | edit source]
External Links[edit | edit source]
- COX18 at the National Center for Biotechnology Information
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Contributors: Prab R. Tumpati, MD
