DISEASES

Disease-gene associations mined from literature

Literature associating ADSS1 and distal myopathy 1

ADSS1 [ENSP00000333019]

Adenylosuccinate synthetase isozyme 1; Component of the purine nucleotide cycle (PNC), which interconverts IMP and AMP to regulate the nucleotide levels in various tissues, and which contributes to glycolysis and ammoniagenesis. Catalyzes the first committed step in the biosynthesis of AMP from IMP.

Synonyms:  ADSS1,  ADSS1p,  hADSS1,  ADSSL1,  G3V232 ...

Linkouts:  STRING  Pharos  UniProt  OMIM