COX20
Description
The COX20 (cytochrome c oxidase assembly factor COX20) is a protein-coding gene located on chromosome 1.
COX20 is a human gene encoding a protein involved in the assembly of cytochrome c oxidase, a crucial component of the respiratory pathway. Mutations in COX20 can cause mitochondrial complex IV deficiency. The gene resides on chromosome 1 and produces a 13.3 kDa protein composed of 118 amino acids, containing two transmembrane helices and localizing to the mitochondrial membrane. It is essential for the assembly of cytochrome c oxidase (complex IV), the terminal complex of the mitochondrial respiratory chain responsible for catalyzing the oxidation of cytochrome c by molecular oxygen. Multiple pseudogenes exist for this gene, and alternative splicing results in multiple transcript variants.
COX20 is essential for the assembly of mitochondrial respiratory chain complex IV (CIV), also known as cytochrome c oxidase. It acts as a chaperone in the early stages of cytochrome c oxidase subunit II (MT-CO2/COX2) maturation, stabilizing the newly synthesized protein and presenting it to metallochaperones SCO1/2. This process facilitates the incorporation of the mature MT-CO2/COX2 into the assembling CIV holoenzyme.
COX20 is also known as FAM36A, MC4DN11.
