ADPRS
Description
The ADPRS gene provides instructions for making an enzyme called adenylosuccinate synthetase. This enzyme is crucial for purine metabolism, a process that produces the building blocks for DNA and RNA. It catalyzes the conversion of inosine monophosphate (IMP) to adenylosuccinate, an essential step in the synthesis of adenosine monophosphate (AMP). AMP is a fundamental component of ATP, the primary energy currency of cells. Dysregulation of ADPRS activity can lead to various metabolic disorders.
Associated Diseases
- Myopathy with lactic acidosis and sideroblasts (MLAS)
- Adenylosuccinase deficiency
- Lesch-Nyhan syndrome
- Purine nucleoside phosphorylase deficiency
Did you know?
Mutations in the ADPRS gene are relatively rare, but they can have significant impacts on cellular function and metabolism.
