Functional genomics and SNP analysis of human genes encoding proline metabolic enzymes

Chien An A. Hu, D. Bart Williams, Siqin Zhaorigetu, Shadi Khalil, Guanghua Wan, David Valle

Research output: Contribution to journalArticlepeer-review

32 Scopus citations


Proline metabolism in mammals involves two other amino acids, glutamate and ornithine, and five enzymatic activities, Δ1-pyrroline-5- carboxylate (P5C) reductase (P5CR), proline oxidase, P5C dehydrogenase, P5C synthase and ornithine-δ-aminotransferase (OAT). With the exception of OAT, which catalyzes a reversible reaction, the other four enzymes are unidirectional, suggesting that proline metabolism is purpose-driven, tightly regulated, and compartmentalized. In addition, this tri-amino-acid system also links with three other pivotal metabolic systems, namely the TCA cycle, urea cycle, and pentose phosphate pathway. Abnormalities in proline metabolism are relevant in several diseases: six monogenic inborn errors involving metabolism and/or transport of proline and its immediate metabolites have been described. Recent advances in the Human Genome Project, in silico database mining techniques, and research in dissecting the molecular basis of proline metabolism prompted us to utilize functional genomic approaches to analyze human genes which encode proline metabolic enzymes in the context of gene structure, regulation of gene expression, mRNA variants, protein isoforms, and single nucleotide polymorphisms.

Original languageEnglish (US)
Pages (from-to)655-664
Number of pages10
JournalAmino Acids
Issue number4
StatePublished - Nov 2008


  • Apoptosis
  • Functional genomics
  • L-Proline
  • OAT
  • OH-POX
  • OMIM
  • P53
  • P5CDH
  • Promoter analysis
  • SNP
  • Δ-Pyrroline-5-carboxylate (P5C)

ASJC Scopus subject areas

  • Biochemistry
  • Clinical Biochemistry
  • Organic Chemistry


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