Recombinant Human Carbamoyl-phosphate synthase [ammonia], mitochondrial (CPS1), Truncated

Uniprot Id

P31327

Target Species

Human

Target Name

CPS1

Target Full Name

Carbamoyl-phosphate synthase [ammonia], mitochondrial

Target Function

Involved in the urea cycle of ureotelic animals where the enzyme plays an important role in removing excess ammonia from the cell.

Target Involvement

Carbamoyl phosphate synthetase 1 deficiency (CPS1D); Pulmonary hypertension, neonatal (PHN)

Target Subcellular Location

Mitochondrion. Nucleus, nucleolus.

Target Tissue Specificity

Primarily in the liver and small intestine.

Target Research Area

Signal Transduction, Cancer

Target Synonyms

Carbamoyl phosphate synthase [ammonia]; Carbamoyl phosphate synthase [ammonia] mitochondrial; Carbamoyl phosphate synthase; Carbamoyl phosphate synthetase 1; Carbamoyl phosphate synthetase 1 mitochondrial; Carbamoyl phosphate synthetase I; Carbamoyl-phosphate synthase [ammonia]; Carbamoyl-phosphate synthetase I; Carbamoylphosphate synthase; Carbamoylphosphate synthetase 1; Carbamoylphosphate synthetase I; CPS 1; Cps1; CPSase 1; CPSase I; CPSASE1; CPSM_HUMAN; mitochondrial; MS738

Target Background

The mitochondrial enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate. This reaction is the first committed step of the urea cycle, which is important in the removal of excess urea from cells. The encoded protein may also represent a core mitochondrial nucleoid protein. Three transcript variants encoding different isoforms have been found for this gene. The shortest isoform may not be localized to the mitochondrion. Mutations in this gene have been associated with carbamoyl phosphate synthetase deficiency, susceptibility to persistent pulmonary hypertension, and susceptibility to venoocclusive disease after bone marrow transplantation.