基因名：
CPS1
产品别名：
CPSASE1； GATD6； PHN； CPS1； carbamoyl-phosphate synthase 1； carbamoyl-phosphate synthase 1； carbamoyl-phosphate synthase [ammonia], mitochondrial； carbamoyl-phosphate synthase (ammonia)； carbamoyl-phosphate synthase 1, mitochondrial； carbamoylphosphate synthetase I； 氨甲酰磷酸合成酶1；
背景信息：
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]
