Proteins > Carbamoyl-phosphate synthase I (CPS1)
Carbamoyl-phosphate synthase I (CPS1)
|
UniProt Number: |
P31327 |
|
Alternate Names: |
carbamoyl-phosphate synthetase I, CPSase I |
|
Structure and Function: |
Involved in the urea cycle where the enzyme plays an important role in removing excess ammonia from the cell. |
|
Disease Associations: |
Defects in CPS1 are the cause of carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]. Defects in CPS1 are are also associated with susceptibility to familial persistent pulmonary hypertension of the newborn [MIM:265380]; also called congenital alveolar capillary dysplasia or CACD. |
Monoclonal Antibodies
|
