COX4I1

COX4I1 or Cytochrome c oxidase subunit 4I1 is a protein that in humans is encoded by the COX4I1 gene. It is a component of the cytochrome c oxidase complex, also known as Complex IV, which is the last enzyme in the mitochondrial electron transport chain.

Function

The COX4I1 protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport. The COX4I1 protein is located in the inner mitochondrial membrane and plays a crucial role in energy production, being the site of cellular respiration and ATP production.

Structure

The COX4I1 gene is located on the q arm of chromosome 16 in position 24.2 and spans 6,685 base pairs. The gene produces a 19.6 kDa protein composed of 169 amino acids. The structure of the protein includes a heme group, which allows it to function as an electron carrier within the cytochrome c oxidase complex.

Clinical significance

Mutations in the COX4I1 gene have been associated with a variety of disorders, primarily those related to mitochondrial function. These include Leigh syndrome, a severe neurological disorder that typically arises in the first year of life and is characterized by progressive loss of mental and movement abilities.

Research

Research into the COX4I1 gene and its associated protein may provide insights into the treatment of disorders related to mitochondrial function. Current research is focused on understanding the role of COX4I1 in cellular respiration and energy production, as well as its potential role in the development of certain types of cancer.

See also

• Cytochrome c oxidase
• Mitochondrial electron transport chain
• Leigh syndrome