Adenylosuccinate synthetase 1 (ADSS1)

Adenylosuccinate synthetase 1 (ADSS1) is a muscle-specific enzyme that plays a critical role in the de novo synthesis of adenosine monophosphate (AMP) and the purine nucleotide cycle (UniProt P30520). It catalyzes the GTP-dependent conversion of inosine monophosphate (IMP) and L-aspartate into adenylosuccinate, which is subsequently converted to AMP (NCBI Gene ID: 159). This process is vital for maintaining energy homeostasis in skeletal muscle, especially during periods of high metabolic demand or exercise. Mutations in the ADSS1 gene are clinically associated with distal myopathy, a condition characterized by progressive muscle weakness and the presence of vacuoles in muscle fibers (PubMed: 27588451). While ADSS1 is not a primary target for many approved drugs, it is inhibited by compounds like hadacidin and alanosine, which act as aspartate analogs (PubChem CID: 119044). Understanding ADSS1 function is essential for developing treatments for metabolic myopathies and potentially modulating purine levels in specific tissues.

Other names

Adenylosuccinate synthetase, muscle isozymeAMPSase 1IMP--aspartate ligase 1ADSSADSSL1

Competitive inhibition of the aspartate binding site during the conversion of IMP to adenylosuccinate.