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- Table of Contents
1 Citations
Facts about Carbamoyl-phosphate synthase [ammonia], mitochondrial.
Human | |
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Gene Name: | CPS1 |
Uniprot: | P31327 |
Entrez: | 1373 |
Belongs to: |
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No superfamily |
carbamoyl-phosphate synthase [ammonia], mitochondrial; carbamoyl-phosphate synthase 1, mitochondrial; carbamoyl-phosphate synthetase 1, mitochondrial; carbamoylphosphate synthetase I; Carbamoyl-phosphate synthetase I; CPSase I; CPSASE1; EC 6.3.4.16
Mass (kDA):
164.939 kDA
Human | |
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Location: | 2q34 |
Sequence: | 2; NC_000002.12 (210477685..210679107) |
Primarily in the liver and small intestine.
Mitochondrion. Nucleus, nucleolus.
PMID: 1840546 by Haraguchi Y., et al. Cloning and sequence of a cDNA encoding human carbamyl phosphate synthetase I: molecular analysis of hyperammonemia.
PMID: 9711878 by Finckh U., et al. Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1.
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