ACO2

ACO2 or Aconitase 2 is an enzyme that in humans is encoded by the ACO2 gene. It is a key metabolic enzyme involved in the tricarboxylic acid cycle (TCA cycle), also known as the Krebs cycle or citric acid cycle.

Function

ACO2 is an iron-sulfur protein that contains a [4Fe-4S] cluster and catalyzes the stereo-specific isomerization of citrate to isocitrate via cis-aconitate in the second step of the TCA cycle, a key energy-yielding step in cellular metabolism.

Clinical significance

Mutations in the ACO2 gene are associated with Infantile cerebellar-retinal degeneration and Optic atrophy 9. These conditions are characterized by progressive loss of vision and coordination, as well as a range of other neurological symptoms.

Structure

The ACO2 protein is a homodimer, with each subunit containing a [4Fe-4S] cluster. The protein is located in the mitochondria, where it plays a crucial role in energy production.

See also

• Aconitase
• Iron-sulfur protein
• Tricarboxylic acid cycle

External links

• NCBI Gene
• UniProt