Gene Symbol: Aldh18a1
Description: aldehyde dehydrogenase 18 family, member A1
Alias: Pycs, delta-1-pyrroline-5-carboxylate synthase, pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)
Wakabayashi Y, Henslee J, Jones M. Pyrroline-5-carboxylate synthesis from glutamate by rat intestinal mucosa. Subcellular localization and temperature stability. J Biol Chem. 1983;258:3873-82 pubmed
..The possibility that the enzyme(s) is located in the inner mitochondrial membrane is discussed. ..
Henslee J, Wakabayashi Y, Small C, Jones M. Factors influencing pyrroline 5-carboxylate synthesis from glutamate by rat intestinal mucosa mitochondria. Arch Biochem Biophys. 1983;226:693-703 pubmed
Hu C, Lin W, Obie C, Valle D. Molecular enzymology of mammalian Delta1-pyrroline-5-carboxylate synthase. Alternative splice donor utilization generates isoforms with different sensitivity to ornithine inhibition. J Biol Chem. 1999;274:6754-62 pubmed
..25 mM. Surprisingly, the long isoform is insensitive to ornithine inhibition. Thus, the two amino acid insert in the long isoform abolishes feedback inhibition of P5CS activity by L-ornithine. ..
Baumgartner M, Hu C, Almashanu S, Steel G, Obie C, Aral B, et al
. 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. Hum Mol Genet. 2000;9:2853-8 pubmed
..This is the first documented report of an inborn error of P5CS and suggests that this disorder should be considered in the differential diagnosis in patients with neurodegeneration and/or cataracts and connective tissue disease. ..
Bicknell L, Pitt J, Aftimos S, Ramadas R, Maw M, Robertson S. A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome. Eur J Hum Genet. 2008;16:1176-86 pubmed publisher
..63). One gene within the candidate interval, ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), was considered a plausible disease gene since a ..
Fischer B, Callewaert B, Schröter P, Coucke P, Schlack C, Ott C, et al
. Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1. Mol Genet Metab. 2014;112:310-6 pubmed publisher
..b>ALDH18A1-related ARCL is the most severe form within this disease spectrum...
Handley M, MÃ©garbanÃ© A, Meynert A, Brown S, Freyer E, Taylor M, et al
. Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome. Mol Genet Genomic Med. 2014;2:319-25 pubmed publisher
Autosomal recessive cutis laxa type 3A is caused by mutations in ALDH18A1, a gene encoding the mitochondrial enzyme Î”(1)-pyrroline-5-carboxylate synthase (P5CS)...
Coutelier M, Goizet C, Durr A, Habarou F, Morais S, Dionne Laporte A, et al
. Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. Brain. 2015;138:2191-205 pubmed publisher
..limited pyramidal involvement also occurs in patients with an autosomal recessive neurocutaneous syndrome due to ALDH18A1 mutations...
Fischer Zirnsak B, Escande Beillard N, Ganesh J, Tan Y, Al Bughaili M, Lin A, et al
. Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. Am J Hum Genet. 2015;97:483-92 pubmed publisher
..They are caused by biallelic mutations in PYCR1 or ALDH18A1, encoding pyrroline-5-carboxylate reductase 1 and pyrroline-5-carboxylate synthase (P5CS), respectively, which ..