AK2 Human

Adenylate Kinase 2 (AK2) is a crucial enzyme involved in cellular energy homeostasis. It belongs to the adenylate kinase family, which plays a significant role in the interconversion of adenine nucleotides (ATP, ADP, and AMP). AK2 is particularly important due to its localization in the mitochondrial intermembrane space and its involvement in apoptosis .

Adenylate kinase enzymes, including AK2, catalyze the reversible transfer of a phosphate group from ATP to AMP, producing two molecules of ADP. This reaction is essential for maintaining the balance of adenine nucleotides within the cell, which is critical for energy metabolism .

The reaction catalyzed by AK2 can be represented as:

$$\text{ATP} + \text{AMP} \leftrightarrow 2 \text{ADP}$$

AK2 is unique among adenylate kinases due to its specific localization in the mitochondrial intermembrane space. This positioning allows AK2 to play a pivotal role in mitochondrial energy metabolism and apoptosis regulation .

Mutations in the AK2 gene have been linked to a rare genetic disorder known as reticular dysgenesis. This condition is characterized by severe immunodeficiency and sensorineural hearing loss. The mutation leads to a loss of AK2 function, which disrupts normal mitochondrial function and triggers apoptosis in hematopoietic stem cells .

Additionally, AK2 has been implicated in various other medical conditions due to its role in cellular energy homeostasis. Dysregulation or mutation of AK2 can contribute to the pathogenesis of diseases where oxidative stress and energy metabolism are critical factors .

Human recombinant AK2 is produced using recombinant DNA technology, which involves inserting the human AK2 gene into a suitable expression system, such as bacteria or yeast. This allows for the large-scale production of AK2 for research and therapeutic purposes. Recombinant AK2 is used in various biochemical assays to study its function, structure, and role in disease .