CPS1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human CPS1 wild-type allele is located in the vicinity of 2q34 and is approximately 201 kb in length. This allele, which encodes carbamoyl-phosphate synthase [ammonia], mitochondrial protein, is involved in the metabolism of nitrogenous toxins. Loss of function mutations in the gene are associated with carbamoylphosphate synthetase I deficiency and increased susceptibility both to persistent neonatal pulmonary hypertension and to venoocclusive disease after bone marrow transplantation.

**Synonyms:** - CPSASE1 - Carbamoyl Phosphate Synthetase 1 Gene - Carbamoyl-Phosphate Synthase (Ammonia) Gene - Carbamoyl-Phosphate Synthase 1 wt Allele - Carbamoyl-Phosphate Synthase 1, Mitochondrial Gene - Carbamoyl-Phosphate Synthetase 1, Mitochondrial Gene - Carbamoylphosphate Synthetase I Gene - GATD6 - PHN