COX6B1

COX6B1 is a gene that provides instructions for making a protein that is essential for normal functioning of the body's cells. The COX6B1 protein 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. This chain is part of a process called oxidative phosphorylation, which generates the energy that cells need to function.

Function

The cytochrome c oxidase complex consists of several proteins, including the COX6B1 protein. This complex is embedded in the inner membrane of mitochondria, which are structures within cells that convert the energy from food into a form that cells can use. The COX6B1 protein helps regulate the activity of the cytochrome c oxidase complex.

Clinical significance

Mutations in the COX6B1 gene have been associated with a form of mitochondrial disease known as COX6B1 deficiency. This condition is characterized by a variety of symptoms, including lactic acidosis, hypotonia (low muscle tone), and developmental delay. In severe cases, it can lead to early death.

Genetics

The COX6B1 gene is located on the short (p) arm of chromosome 19 at position 13.2. This gene is inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations.

See also

• Cytochrome c oxidase
• Mitochondrial disease
• Lactic acidosis
• Hypotonia
• Developmental delay
• Chromosome 19
• Autosomal recessive