靶标：
ALDH18A1
产品别名：
ADCL3； ARCL3A； GSAS； P5CS； PYCS； SPG9； SPG9A； SPG9B； ALDH18A1； aldehyde dehydrogenase 18 family member A1； aldehyde dehydrogenase 18 family member A1； delta-1-pyrroline-5-carboxylate synthase； Spastic paraplegia-9 (spastic paraparesis with amyotrophy, cataracts and gastroesophageal reflux)； aldehyde dehydrogenase family 18 member A1； delta-1-pyrroline-5-carboxylate synthetase； delta1-pyrroline-5-carboxlate synthetase； pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)； spastic paraplegia 9 (autosomal dominant)； γ-5羧酸合成酶；
背景信息：
Delta-1-pyrroline-5-carboxylate synthetase (P5CS) is an enzyme that in humans is encoded by the ALDH18A1 gene. This gene is mapped to 10q24.1. 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.
