PrimePCR™ ddPCR™ Expression Probe Assay: GALE, Human


ddPCR probe assay designed for gene expression analysis. Probe assays consist of unlabeled PCR primers and a dual labeled fluorescent probe.

Info:   HEX; Same primer pair and probe as used in qPCR assay qHsaCIP0032667; Intron-spanning

Fluorophore:   HEX
List Price:    $277.00
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Assay Information

Technology:   ddPCR
Assay Type:   Probe
Application:   Gene Expression
Unique Assay ID:   dHsaCPE5057077
Chromosome Location:   1:24124298-24124715question
Amplicon Length:   143

Gene Information

This gene encodes UDP-galactose-4-epimerase which catalyzes two distinct but analogous reactions: the epimerization of UDP-glucose to UDP-galactose and the epimerization of UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine. The bifunctional nature of the enzyme has the important metabolic consequence that mutant cells (or individuals) are dependent not only on exogenous galactose but also on exogenous N-acetylgalactosamine as a necessary precursor for the synthesis of glycoproteins and glycolipids. Mutations in this gene result in epimerase-deficiency galactosemia also referred to as galactosemia type 3 a disease characterized by liver damage early-onset cataracts deafness and mental retardation with symptoms ranging from mild ('peripheral' form) to severe ('generalized' form). Multiple alternatively spliced transcripts encoding the same protein have been identified. [provided by RefSeq Jul 2008]

Gene Symbol:   GALE
Gene Name:   UDP-galactose-4-epimerase
Aliases:   FLJ95174, FLJ97302, SDR1E1
RefSeq:   NC_000001.10 NG_013061.1 NT_004610.19 NG_007068.1
Ensembl:   ENSG00000117308
Entrez:   2582
UniGene:   Hs.632380
Chromosome Mapping:   1p36-p35

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