CPS1, Official Symbol CPS1provided by HGNC Official Full Name carbamoyl-phosphate synthase 1provided by HGNC Primary source HGNC:HGNC:2323 See related Ensembl:ENSG00000021826 MIM:608307; AllianceGenome:HGNC:2323 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PHN; GATD6; CPSASE1 Summary 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.[provided by RefSeq, May 2010] Expression Biased expression in liver (RPKM 281.3), duodenum (RPKM 102.6) and 1 other tissue See more Orthologs mouse all