DISEASES

Disease-gene associations mined from literature

Literature associating NAGS and ornithine translocase deficiency

NAGS [ENSP00000293404]

N-acetylglutamate synthase, mitochondrial; Plays a role in the regulation of ureagenesis by producing the essential cofactor N-acetylglutamate (NAG), thus modulating carbamoylphosphate synthase I (CPSI) activity; Belongs to the acetyltransferase family.

Synonyms:  NAGS,  K7EK11,  Q2NKP2,  Q8N159,  K7EK11p ...

Linkouts:  STRING  Pharos  UniProt  OMIM