AMPD2

AMPD2

AMPD2 (adenosine monophosphate deaminase 2) is an enzyme that plays a crucial role in the purine nucleotide cycle, which is important for energy metabolism in cells. This enzyme is encoded by the AMPD2 gene in humans.

Function

AMPD2 is responsible for the deamination of adenosine monophosphate (AMP) to inosine monophosphate (IMP), releasing ammonia in the process. This reaction is a key step in the purine nucleotide cycle, which helps to regulate the energy balance within cells, particularly in muscle tissues. The activity of AMPD2 is essential for maintaining the proper levels of adenine nucleotides and for the efficient functioning of cellular energy metabolism.

Clinical Significance

Mutations in the AMPD2 gene have been associated with a rare genetic disorder known as Adenylosuccinate Lyase Deficiency, which can lead to a variety of symptoms including muscle weakness, developmental delay, and neurological issues. Additionally, AMPD2 activity has been studied in the context of myopathy and other muscle-related conditions.

Genetic Information

The AMPD2 gene is located on chromosome 1 in humans. It is one of three genes encoding isoforms of adenosine monophosphate deaminase, the others being AMPD1 and AMPD3. Each isoform has a distinct tissue distribution and physiological role.

Research and Studies

Research on AMPD2 has focused on its role in muscle physiology and its potential involvement in metabolic disorders. Studies have explored how variations in AMPD2 activity can affect muscle performance and energy metabolism, particularly under conditions of stress or exercise.

Also see

• Purine Metabolism
• Adenylosuccinate Lyase Deficiency
• Myopathy
• AMPD1
• AMPD3