ADSS
Description
The ADSS gene provides instructions for creating the enzyme adenylosuccinate synthetase, a vital component of the purine salvage pathway. This pathway recycles purine bases, essential building blocks for DNA and RNA, preventing their loss from the body. ADSS plays a key role in converting inosine monophosphate (IMP) into adenylosuccinate, a precursor to adenosine monophosphate (AMP), a crucial component of ATP, the primary energy currency of cells. Disruptions in ADSS function can lead to various metabolic disorders.
Associated Diseases
Did you know?
ADSS deficiency can lead to a buildup of inosine monophosphate (IMP) in the body, which can cause various neurological symptoms such as seizures and developmental delays.
