ALDH18A1

Aldehyde dehydrogenase 18 family, member A1, also known as ALDH18A1, is a human gene.cite web | title = Entrez Gene: ALDH18A1 aldehyde dehydrogenase 18 family, member A1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5832| accessdate = ]

PBB_Summary
section_title =
summary_text = This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene.cite web | title = Entrez Gene: ALDH18A1 aldehyde dehydrogenase 18 family, member A1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5832| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1-2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=
*cite journal | author=Aral B, Schlenzig JS, Liu G, Kamoun P |title=Database cloning human delta 1-pyrroline-5-carboxylate synthetase (P5CS) cDNA: a bifunctional enzyme catalyzing the first 2 steps in proline biosynthesis. |journal=C. R. Acad. Sci. III, Sci. Vie |volume=319 |issue= 3 |pages= 171–8 |year= 1996 |pmid= 8761662 |doi=
*cite journal | author=Liu G, Maunoury C, Kamoun P, Aral B |title=Assignment of the human gene encoding the delta 1-pyrroline-5-carboxylate synthetase (P5CS) to 10q24.3 by in situ hybridization. |journal=Genomics |volume=37 |issue= 1 |pages= 145–6 |year= 1997 |pmid= 8921385 |doi= 10.1006/geno.1996.0535
*cite journal | author=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, "et al." |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. |journal=Gene |volume=200 |issue= 1-2 |pages= 149–56 |year= 1997 |pmid= 9373149 |doi=
*cite journal | author=Hu CA, Lin WW, Obie C, Valle D |title=Molecular enzymology of mammalian Delta1-pyrroline-5-carboxylate synthase. Alternative splice donor utilization generates isoforms with different sensitivity to ornithine inhibition. |journal=J. Biol. Chem. |volume=274 |issue= 10 |pages= 6754–62 |year= 1999 |pmid= 10037775 |doi=
*cite journal | author=Baumgartner MR, Hu CA, Almashanu S, "et al." |title=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. |journal=Hum. Mol. Genet. |volume=9 |issue= 19 |pages= 2853–8 |year= 2001 |pmid= 11092761 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Deloukas P, Earthrowl ME, Grafham DV, "et al." |title=The DNA sequence and comparative analysis of human chromosome 10. |journal=Nature |volume=429 |issue= 6990 |pages= 375–81 |year= 2004 |pmid= 15164054 |doi= 10.1038/nature02462
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Baumgartner MR, Rabier D, Nassogne MC, "et al." |title=Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline. |journal=Eur. J. Pediatr. |volume=164 |issue= 1 |pages= 31–6 |year= 2005 |pmid= 15517380 |doi= 10.1007/s00431-004-1545-3

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