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Immunogen sequence: IKNVVSGKTS ACFEPSLDYM VTKIPRWDLD RFHGTSSRIG SSMKSVGEVM AIGRTFEESF QKALRMCHPS IEGFTPRLPM NKEWPSNLDL RKELSEPSST RIYAIAKAID DNMSLDEIEK LTYIDKWFLY KMRDILNMEK TLKGLNSESM TEETLKRAKE IGFSDKQISK CLGLTEAQTR ELRLKKNIHP WVKQIDTLAA EYPSVTNYLY VTYNGQEHDV N
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: carbamoyl-phosphate synthase (ammonia); carbamoyl-phosphate synthase 1, mitochondrial; Carbamoyl-phosphate synthase [ammonia], mitochondrial; carbamoyl-phosphate synthetase 1, mitochondrial; Carbamoyl-phosphate synthetase I; carbamoylphosphate synthetase I; carbamyl phosphate synthetase I; carboamyl-phosphate synthetase 1; CPSase I
基因别名: 4732433M03Rik; CPS; CPS1; CPSASE1; D1Ucla3; PHN
UniProt ID: (Human) P31327, (Mouse) Q8C196, (Rat) P07756
Entrez Gene ID: (Human) 1373, (Mouse) 227231, (Rat) 497840