DISEASES

Disease-gene associations mined from literature

Literature associating PFAS and alcohol-related neurodevelopmental disorder

PFAS [ENSP00000313490]

Phosphoribosylformylglycinamidine synthase; Phosphoribosylformylglycinamidine synthase involved in the purines biosynthetic pathway. Catalyzes the ATP-dependent conversion of formylglycinamide ribonucleotide (FGAR) and glutamine to yield formylglycinamidine ribonucleotide (FGAM) and glutamate (By similarity); In the N-terminal section; belongs to the FGAMS family.

Synonyms:  PFAS,  H0YGH1,  J3KT98,  J3KTL4,  J3KTQ5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM