Analysis of ALDH18A1 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-2104-LGZ)

Introduction

Official Full Name: aldehyde dehydrogenase 18 family member A1
Also known as: GSAS; P5CS; PYCS; SPG9; ADCL3; SPG9A; SPG9B; ARCL3A
This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and nadph-dependent mitochondrial enzyme with γ-glutamyl kinase and γ-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta 1-pyrrole-5-carboxylate, a key step in the de novo synthesis 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 iso forms, have been described for this gene.