DISEASES

Disease-gene associations mined from literature

Literature associating ADSL and Arts syndrome

ADSL [ENSP00000485525]

Adenylosuccinate lyase; Catalyzes two non-sequential steps in de novo AMP synthesis: converts (S)-2-(5-amino-1-(5-phospho-D- ribosyl)imidazole-4-carboxamido)succinate (SAICAR) to fumarate plus 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide, and thereby also contributes to de novo IMP synthesis, and converts succinyladenosine monophosphate (SAMP) to AMP and fumarate; Belongs to the lyase 1 family. Adenylosuccinate lyase subfamily.

Synonyms:  ADSL,  B4DEP1,  B4DUM2,  E7ERF4,  P30566 ...

Linkouts:  STRING  Pharos  UniProt