ALDH18A1 Proteins

Protein Information

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.

Synonyms

2810433K04Rik; ADCL3; AI429789; aldehyde dehydrogenase 18 family member A1; aldehyde dehydrogenase 18 family, member A1; Aldehyde dehydrogenase family 18 member A1; ALDH18A1; ARCL3A; delta1-pyrroline-5-carboxlate synthetase; Delta-1-pyrroline-5-carboxylate synthase; delta-1-pyrroline-5-carboxylate synthetase; Gamma-glutamyl kinase; Gamma-glutamyl phosphate reductase; GK; Glutamate 5-kinase; glutamate gamma-semialdehyde synthetase; Glutamate-5-semialdehyde dehydrogenase; Glutamyl-gamma-semialdehyde dehydrogenase; GPR; GSAS; MGC117316; P5CS; PYCS; pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase); SPG9A; SPG9B