ADSL 22:40742507-40786467

Forward strand gene: adenylosuccinate lyase

Also known as: ENSG00000239900

Function: 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, … Source: UniProt

DECIPHER holds 2 sequence variants in this gene, in 2 open-access patients