COA3
Description
The COA3 (cytochrome c oxidase assembly factor 3) is a protein-coding gene located on chromosome 17.
COA3, also known as Coiled-coil domain-containing protein 56 or Mitochondrial translation regulation assembly intermediate of cytochrome c oxidase protein of 12 kDa, is a protein encoded by the COA3 gene in humans. This gene encodes a member of the cytochrome c oxidase assembly factor family, and studies in flies suggest its importance for mitochondrial localization and cytochrome c oxidase function. The COA3 gene is located on chromosome 17 and produces a 7.8 kDa protein with a C-terminal coiled-coil domain and a central transmembrane domain. COA3 is a component of the MITRAC complex, which is essential for the assembly of cytochrome c oxidase (complex IV) within the mitochondrial respiratory chain. This complex regulates the translation of mitochondrial-encoded components and the assembly of nuclear-encoded components. COA3 is specifically required for efficient translation of MT-CO1 and assembly of complex IV. Variants in COA3 have been linked to mitochondrial Complex IV deficiency, a disorder affecting the mitochondrial respiratory chain's ability to utilize molecular oxygen.
COA3 is a core component of the MITRAC complex, a crucial regulator of cytochrome c oxidase (COX) assembly within mitochondria. MITRAC complexes play a vital role in coordinating the translation of mitochondrial-encoded COX components and the assembly of nuclear-encoded COX components that are imported into the mitochondria. COA3 is essential for efficient translation of MT-CO1, a mitochondrial-encoded subunit of COX, and for the proper assembly of complex IV of the mitochondrial respiratory chain.
COA3 is also known as CCDC56, COX25, HSPC009, MC4DN14, MITRAC12, hCOA3.
