基因名：
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：
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. [provided by RefSeq, Jul 2008]
