COA5
From Wikipedia, the free encyclopedia
Cytochrome c oxidase assembly factor 5 is a protein that in humans is encoded by the COA5 gene. This gene encodes an ortholog of yeast Pet191, which in yeast is a subunit of a large oligomeric complex associated with the mitochondrial inner membrane, and required for the assembly of the cytochrome c oxidase complex. Mutations in this gene are associated with mitochondrial complex IV deficiency.[1]
The COA5 gene is located on the q arm of chromosome 2 at position 11.2 and it spans 9,195 base pairs.[1] The COA5 gene produces an 8 kDa protein composed of 73 amino acids.[2][3] The structure of the protein contains the twin CX9C motif of yeast Pet191, which is conserved in the 74-amino acid deduced human protein. An example of the twin CX9C would be a repeated motif of 2 cysteines.[4]
Function
The COA3 gene encodes for a protein involved in an early step of the complex IV assembly process.[5][6] The conserved cysteines in the twin CX9C motif, which is a part of the COA3 protein, has been shown to be essential in cell viability as well as the proper function and assembly of the cytochrome c oxidase complex.[4]