DISEASES

Disease-gene associations mined from literature

Literature associating CPS1 and ornithine translocase deficiency

CPS1 [ENSP00000402608]

Carbamoyl-phosphate synthase [ammonia], mitochondrial; Involved in the urea cycle of ureotelic animals where the enzyme plays an important role in removing excess ammonia from the cell.

Synonyms:  CPS1,  CPS1p,  hCPS1,  A0A024R454,  B7ZAW0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM