This is the amplicon context sequence in accordance with the minimum information for the publication of real-time quantitative PCR experiements (MIQE) guidelines. For more details, please refer to the following publication, "Primer Sequence Disclosure: A Clarification of the MIQE Guidelines."
ddPCR™ probe assay designed for gene expression analysis. Probe assays consist of unlabeled PCR primers and a dual labeled fluorescent probe.
Info: FAM; Same primer pair and probe as used in qPCR assay qHsaCEP0049439; exonic
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]