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Adenylosuccinate Synthase 1

Molecular classification: Enzyme, Adenylosuccinate synthase family

Overview

Adenylosuccinate synthase 1 (ADSS1) is a muscle-specific enzyme that catalyzes the first step in converting inosine monophosphate (IMP) to adenosine monophosphate (AMP) within the purine nucleotide cycle. This is essential for maintaining nucleotide balance and energy metabolism, especially in muscle tissue. Mutations in ADSS1 are associated with a rare neuromuscular disorder, adenylosuccinate synthetase 1 myopathy, characterized by progressive distal myopathy.

Other names: ADSSL1MPD5Adenylosuccinate synthase like 1

Biological functions

CatalysisPurine nucleotide cycleIMP to AMP conversionEnergy metabolismNucleotide salvage

Disease associations

Adenylosuccinate synthetase 1 myopathyNeuromuscular disorder

Safety considerations

Progressive myopathyAdolescent onset

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