PrimePCR™ ddPCR™ Expression Probe Assay: ALDH18A1, Human

PrimePCR

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

 
Fluorophore:   FAM
List Price:    $207.00
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Assay Information

Technology:   ddPCR
Assay Type:   Probe
Application:   Gene Expression
Unique Assay ID:   dHsaCPE5032578
Chromosome Location:   10:97366562-97366672question
Amplicon Length:   81

Gene 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. [provided by RefSeq Jul 2008]

Gene Symbol:   ALDH18A1
Gene Name:   aldehyde dehydrogenase 18 family, member A1
Aliases:   GSAS, MGC117316, P5CS, PYCS
RefSeq:   NC_000010.10 NT_030059.13 NG_012258.1
Ensembl:   ENSG00000059573
Entrez:   5832
UniGene:   Hs.500645
Chromosome Mapping:   10q24.3

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