COA5
Description
The COA5 (cytochrome c oxidase assembly factor 5) is a protein-coding gene located on chromosome 2.
COA5, also known as Cytochrome c oxidase assembly factor 5, is a protein encoded by the human COA5 gene. It is an ortholog of the yeast Pet191 protein, which plays a crucial role in the assembly of the cytochrome c oxidase complex within the mitochondrial inner membrane. Mutations in the COA5 gene have been linked to mitochondrial complex IV deficiency, a condition characterized by a deficiency in the enzyme complex responsible for the catalysis of cytochrome c oxidation using molecular oxygen. The COA5 gene is located on chromosome 2 and spans 9,195 base pairs. The protein encoded by the COA5 gene is 8 kDa in size and consists of 73 amino acids. It features the conserved twin CX9C motif, similar to the yeast Pet191 protein, which is essential for cell viability and proper function of the cytochrome c oxidase complex. The conserved cysteines within this motif are critical for the assembly and function of complex IV. Variants in the COA5 gene have been primarily associated with mitochondrial complex IV deficiency.
COA5 is also known as 6330578E17Rik, C2orf64, CEMCOX3, MC4DN9, Pet191.
