Article
Cloning and sequence of a cDNA encoding human carbamyl phosphate synthetase I: molecular analysis of hyperammonemia.
Gene - 15 Nov 1991
Haraguchi Y, Uchino T, Takiguchi M, Endo F, Mori M, Matsuda I
Abstract excerpt
Carbamyl phosphate synthetase I (CPSI) is the first enzyme involved in urea synthesis. CPSI deficiency is an autosomal recessive disorder characterized by hyperammonemic coma in the neonatal period. To analyze the enzyme and gene structures, and to elucidate the nature of mutations in CPSI deficiency, we isolated cDNA clones encoding human liver CPSI. Oligo(dT)-primed and random primer human liver cDNA libraries...
Topics
- Amino Acid Metabolism, Inborn Errors
- Amino Acid Sequence
- Ammonia
- Base Sequence
- Blotting, Southern
- Carbamoyl-Phosphate Synthase (Ammonia)
- Cloning, Molecular
- Female
- Genes, Recessive
- Humans
- Male