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Immunogen sequence: GILIGIQQS FRPRFLGVAE QLHNEGFKLF ATEATSDWLN ANNVPATPVA WPSQEGQNPS LSSIRKLIRD GSIDLVINLP NNNTKFVHDN YVIRRTAVDS GIPLLTNFQV TKLFAEAVQK SRKVDSKSLF HYRQYSAGKA A (1361-1500 aa encoded by BC140943)
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.
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Protein Aliases: 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
Gene Aliases: 4732433M03Rik; CPS; CPS1; CPSASE1; D1Ucla3; PHN
Molecular Function: ligase