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Aldehyde Dehydrogenase 18 Family, Member A1 (ALDH18A1)

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GSAS; P5CS; PYCS; GPR; Delta-1-Pyrroline-5-Carboxylate Synthetase; Glutamate Gamma-Semialdehyde Synthetase; Glutamate 5-kinase; Gamma-glutamyl phosphate reductase

Aldehyde Dehydrogenase 18 Family, Member A1 (ALDH18A1)
CCC E841
HGNC 9722
MGI 1888908
PubMed 18478038
RGD 1311431
UniProt P54886
Wiki ALDH18A1
ALDH18A1is 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.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Aldehyde Dehydrogenase 18 Family, Member A1 (ALDH18A1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Aldehyde Dehydrogenase 18 Family, Member A1 (ALDH18A1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Aldehyde Dehydrogenase 18 Family, Member A1 (ALDH18A1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Aldehyde Dehydrogenase 18 Family, Member A1 (ALDH18A1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Aldehyde Dehydrogenase 18 Family, Member A1 (ALDH18A1) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Aldehyde Dehydrogenase 18 Family, Member A1 (ALDH18A1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Aldehyde Dehydrogenase 18 Family, Member A1 (ALDH18A1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Aldehyde Dehydrogenase 18 Family, Member A1 (ALDH18A1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Aldehyde Dehydrogenase 18 Family, Member A1 (ALDH18A1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Aldehyde Dehydrogenase 18 Family, Member A1 (ALDH18A1) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Aldehyde Dehydrogenase 18 Family, Member A1 (ALDH18A1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Aldehyde Dehydrogenase 18 Family, Member A1 (ALDH18A1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Aldehyde Dehydrogenase 18 Family, Member A1 (ALDH18A1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Aldehyde Dehydrogenase 18 Family, Member A1 (ALDH18A1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Aldehyde Dehydrogenase 18 Family, Member A1 (ALDH18A1) ELISA Kit Customized Service Offer
  1. "Database cloning human delta 1-pyrroline-5-carboxylate synthetase (P5CS) cDNA: a bifunctional enzyme catalyzing the first 2 steps in proline biosynthesis."C. R. Acad. Sci. III, Sci. Vie 319:171-178(1996) [PubMed] [Europe PMC] [Abstract]
  2. "Molecular enzymology of mammalian delta1-pyrroline-5-carboxylate synthase. Alternative splice donor utilization generates isoforms with different sensitivity to ornithine inhibition."J. Biol. Chem. 274:6754-6762(1999) [PubMed] [Europe PMC] [Abstract]
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  4. "The DNA sequence and comparative analysis of human chromosome 10." Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  6. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  7. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  8. "Crystal structure of human pyrroline-5-carboxylate synthetase."Submitted (JUL-2011) to the PDB data bank
  9. "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. 9:2853-2858(2000) [PubMed] [Europe PMC] [Abstract]
  10. "A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome."Eur. J. Hum. Genet. 16:1176-1186(2008) [PubMed] [Europe PMC] [Abstract]