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Gene Review

ALDH18A1  -  aldehyde dehydrogenase 18 family, member A1

Homo sapiens

Synonyms: ARCL3A, Aldehyde dehydrogenase family 18 member A1, Delta-1-pyrroline-5-carboxylate synthase, GSAS, P5CS, ...
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Disease relevance of ALDH18A1

  • Here, we describe a newly recognized inborn error due to the deficiency of P5CS in two siblings with progressive neurodegeneration, joint laxity, skin hyperelasticity and bilateral subcapsular cataracts [1].
  • Recently, we reported a newly recognised inborn error due to deficiency of P5CS in two sibs, one presenting at birth with hypotonia, dysmorphic signs, pes planus and clonic seizures [2].
  • 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 [3].
  • Under dehydration conditions, when expression of the gene for P5CS is strongly induced, expression of the gene for ProDH is inhibited [4].

High impact information on ALDH18A1

  • delta(1)-pyrroline-5-carboxylate synthase (P5CS), a bifunctional ATP- and NADPH-dependent mitochondrial enzyme, catalyzes the reduction of glutamate to delta(1)-pyrroline-5-carboxylate, a critical step in the biosynthesis of proline, ornithine and arginine [1].
  • Both are homozygous for the missense mutation, R84Q, which alters a conserved residue in the P5CS gamma-glutamyl kinase domain [1].
  • Previously, we showed that mammalian P5CS undergoes alternative splicing to generate two isoforms differing only by a 2 amino acid insert at the N-terminus of the gamma-glutamyl kinase active site [1].
  • R84Q is not present in 194 control chromosomes and dramatically reduces the activity of both P5CS isoforms when expressed in mammalian cells [1].
  • We conclude that transcriptional regulation of these genes for P5CS is probably not important for the osmotic or pollen-specific regulation of Pro synthesis in tomato [5].

Biological context of ALDH18A1

  • 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 [3].
  • The clones share 65% identity in nucleotide sequences, 74% homology in deduced amino acid sequences, and both show a high similarity to Vigna aconitifolia and Arabidopsis thaliana P5CS cDNA clones [6].

Anatomical context of ALDH18A1


Associations of ALDH18A1 with chemical compounds


Analytical, diagnostic and therapeutic context of ALDH18A1


  1. Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase. Baumgartner, M.R., Hu, C.A., Almashanu, S., Steel, G., Obie, C., Aral, B., Rabier, D., Kamoun, P., Saudubray, J.M., Valle, D. Hum. Mol. Genet. (2000) [Pubmed]
  2. Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline. Baumgartner, M.R., Rabier, D., Nassogne, M.C., Dufier, J.L., Padovani, J.P., Kamoun, P., Valle, D., Saudubray, J.M. Eur. J. Pediatr. (2005) [Pubmed]
  3. Database cloning human delta 1-pyrroline-5-carboxylate synthetase (P5CS) cDNA: a bifunctional enzyme catalyzing the first 2 steps in proline biosynthesis. Aral, B., Schlenzig, J.S., Liu, G., Kamoun, P. C. R. Acad. Sci. III, Sci. Vie (1996) [Pubmed]
  4. Regulation of levels of proline as an osmolyte in plants under water stress. Yoshiba, Y., Kiyosue, T., Nakashima, K., Yamaguchi-Shinozaki, K., Shinozaki, K. Plant Cell Physiol. (1997) [Pubmed]
  5. Comparative analysis of the regulation of expression and structures of two evolutionarily divergent genes for Delta1-pyrroline-5-carboxylate synthetase from tomato. Fujita, T., Maggio, A., Garcia-Rios, M., Bressan, R.A., Csonka, L.N. Plant Physiol. (1998) [Pubmed]
  6. Isolation and characterization of two different cDNAs of delta1-pyrroline-5-carboxylate synthase in alfalfa, transcriptionally induced upon salt stress. Ginzberg, I., Stein, H., Kapulnik, Y., Szabados, L., Strizhov, N., Schell, J., Koncz, C., Zilberstein, A. Plant Mol. Biol. (1998) [Pubmed]
  7. Assignment of the human gene encoding the delta 1-pyrroline-5-carboxylate synthetase (P5CS) to 10q24.3 by in situ hybridization. Liu, G., Maunoury, C., Kamoun, P., Aral, B. Genomics (1996) [Pubmed]
  8. Structures of mono-unsaturated triacylglycerols. II. The beta(2) polymorph. van Mechelen, J.B., Peschar, R., Schenk, H. Acta Crystallogr., B (2006) [Pubmed]
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