Adenylosuccinate synthetase 1 (ADSS1) (ADSS1)

Adenylosuccinate synthetase 1 (ADSS1) is an enzyme that plays a pivotal role in the de novo synthesis of adenosine monophosphate (AMP) and the purine nucleotide cycle, specifically within striated muscle tissue (UniProt: P30520). It catalyzes the first committed step in the conversion of inosine monophosphate (IMP) to AMP by forming adenylosuccinate from IMP and L-aspartate in a GTP-dependent reaction (NCBI Gene: 159). This process is essential for maintaining the adenine nucleotide pool and supporting energy metabolism during muscle contraction. Mutations in the ADSS1 gene are primarily associated with ADSS1-related distal myopathy, a rare autosomal recessive disorder characterized by progressive muscle weakness and the presence of rimmed vacuoles in muscle fibers (PMID: 27153397). While ADSS1 is not currently a common target for mainstream pharmacotherapy, inhibitors like hadacidin have been used in research to study purine metabolism (PubChem: CID 4435). The enzyme remains a point of interest for understanding metabolic myopathies and potential therapeutic interventions in nucleotide metabolism.

Other names

ADSSADSSL1Adenylosuccinate synthetase muscle isozymeAMPSase 1

Competitive inhibition of the enzyme's aspartate binding site, preventing the synthesis of adenylosuccinate from IMP and aspartate (PubChem: CID 4435).