Disease-gene associations mined from literature

Literature associating ASS1 and ornithine carbamoyltransferase deficiency

ASS1 [ENSP00000361471]

Argininosuccinate synthase 1; One of the enzymes of the urea cycle, the metabolic pathway transforming neurotoxic amonia produced by protein catabolism into inocuous urea in the liver of ureotelic animals. Catalyzes the formation of arginosuccinate from aspartate, citrulline and ATP and together with ASL it is responsible for the biosynthesis of arginine in most body tissues; Belongs to the argininosuccinate synthase family. Type 1 subfamily.

Synonyms:  ASS1,  ASS1p,  hASS1,  P00966,  Q5T6L4 ...

Linkouts:  STRING  Pharos  UniProt