Adenylosuccinate synthetase 1 (ADSSL1) (ADSSL1)

Adenylosuccinate synthetase 1 (ADSSL1) is a muscle-specific enzyme that plays a critical role in the de novo synthesis of adenosine monophosphate (AMP) by catalyzing the conversion of inosine monophosphate (IMP) to adenylosuccinate (UniProt: Q8N142). This step is essential for maintaining the cellular adenine nucleotide pool, which is vital for energy metabolism and signaling in striated muscle tissues (NCBI Gene: 122622). Mutations in the ADSSL1 gene are primarily associated with a rare form of autosomal recessive distal myopathy, characterized by progressive muscle weakness and the presence of nemaline bodies (PubMed: 26833332). While ADSSL1 is a key metabolic enzyme, its role as a direct therapeutic target is currently more focused on addressing genetic deficiencies rather than pharmacological inhibition. However, inhibitors like hadacidin have been used in research to study purine metabolism, and related enzymes in the purine pathway are often explored as targets in oncology to disrupt the metabolic requirements of rapidly dividing cells (PubChem: CID 119044). Understanding ADSSL1's function is crucial for developing potential gene therapies or metabolic bypass strategies for patients with ADSSL1-related myopathy.

Other names

ADSS1Adenylosuccinate synthetase, muscle isozymeAMPSase 1Adenylosuccinate synthetase-like 1

Competitive inhibition of adenylosuccinate synthetase activity, preventing the conversion of inosine monophosphate (IMP) to adenylosuccinate.