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delta 1-pyrroline-5-carboxylate synthetase (P5CS) catalyzes the ATP and the NAD(P)H-dependent conversion of L-glutamate to glutamic gamma-semialdehyde (GSA) which is the metabolic precursor for proline biosynthesis. We cloned a human P5CS cDNA by database cloning strategy and sequenced 2,907 bp from this cDNA which has a closed open reading frame (ORF) of 2,385 bp coding for a polypeptide of 795 amino acid residues. This cDNA, as its plant counterpart, encodes a bifunctional enzyme, with both gamma-glutamyl kinase (gamma-GK) and gamma-glutamyl phosphate reductase (gamma-GPR) activities that catalyzes the first 2 steps in proline biosynthesis and it hybridizes to a 4.5 kb mRNA from various tissues. A human genetic disease caused by a deficient P5CS has been recognized. The phenotypic features for deficiency of P5CS include joint hyperlaxity, skin hyperelasticity, cataract and mental retardation with hyperammonemia and low plasma levels of proline, citrulline and ornithine.
Oxidoreductases Acting on CH-NH Group Donors, DNA, Complementary, Base Sequence, Databases, Factual, Proline, Molecular Sequence Data, Phosphotransferases (Carboxyl Group Acceptor), Aldehyde Oxidoreductases, Catalysis, 1-Pyrroline-5-Carboxylate Dehydrogenase, Structure-Activity Relationship, Glutamate-5-Semialdehyde Dehydrogenase, Humans, Amino Acid Sequence, Cloning, Molecular
Oxidoreductases Acting on CH-NH Group Donors, DNA, Complementary, Base Sequence, Databases, Factual, Proline, Molecular Sequence Data, Phosphotransferases (Carboxyl Group Acceptor), Aldehyde Oxidoreductases, Catalysis, 1-Pyrroline-5-Carboxylate Dehydrogenase, Structure-Activity Relationship, Glutamate-5-Semialdehyde Dehydrogenase, Humans, Amino Acid Sequence, Cloning, Molecular
citations This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically). | 18 | |
popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network. | Average | |
influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically). | Top 10% | |
impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network. | Top 10% |