Aldehyde Dehydrogenase 18 Family, Member A1 (ALDH18A1)
GSAS; P5CS; PYCS; GPR; Delta-1-Pyrroline-5-Carboxylate Synthetase; Glutamate Gamma-Semialdehyde Synthetase; Glutamate 5-kinase; Gamma-glutamyl phosphate reductase
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)
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Organism species: Mus musculus (Mouse)
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- Customized Service n/a CLIA Kit for Aldehyde Dehydrogenase 18 Family, Member A1 (ALDH18A1) CLIA Kit Customized Service Offer
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Organism species: Rattus norvegicus (Rat)
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- Customized Service n/a Polyclonal Antibody to Aldehyde Dehydrogenase 18 Family, Member A1 (ALDH18A1) Polyclonal Antibody Customized Service Offer
- Customized Service n/a CLIA Kit for Aldehyde Dehydrogenase 18 Family, Member A1 (ALDH18A1) CLIA Kit Customized Service Offer
- Customized Service n/a ELISA Kit for Aldehyde Dehydrogenase 18 Family, Member A1 (ALDH18A1) ELISA Kit Customized Service Offer