BAT2

Ideogram human chromosome 6

== BAT2 ==

BAT2 is a gene that encodes a protein involved in the biosynthesis of coenzyme Q, an essential component of the electron transport chain in mitochondria. This gene is located on chromosome 6 in humans and plays a crucial role in cellular energy production.

Function

The protein encoded by BAT2 is a member of the Coq family of proteins, which are responsible for the biosynthesis of coenzyme Q. Coenzyme Q is a vital component of the electron transport chain, where it plays a key role in generating adenosine triphosphate (ATP), the primary energy currency of the cell.

Structure

BAT2 is composed of multiple exons that undergo alternative splicing to generate different isoforms of the protein. The protein structure includes functional domains that are essential for its enzymatic activity in the coenzyme Q biosynthetic pathway.

Clinical Significance

Mutations in the BAT2 gene have been associated with various mitochondrial disorders, including coenzyme Q deficiency syndromes. These disorders can lead to a range of symptoms, such as muscle weakness, exercise intolerance, and neurological abnormalities.

Research

Research on BAT2 and its role in coenzyme Q biosynthesis is ongoing, with scientists investigating potential therapeutic strategies for treating mitochondrial disorders associated with mutations in this gene.

See also

• Coenzyme Q
• Mitochondria
• Electron transport chain