PrimePCR™ ddPCR™ Expression Probe Assay: GNPTAB, 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 qHsaCIP0028579; Intron-spanning

 
Fluorophore:   FAM
List Price:    $207.00
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Assay Information

Technology:   ddPCR
Assay Type:   Probe
Application:   Gene Expression
Unique Assay ID:   dHsaCPE5050944
Chromosome Location:   12:102190455-102224408question
Amplicon Length:   128

Gene Information

This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase a heterohexameric complex composed of two alpha two beta and two gamma subunits. The encoded protein is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and beta polypeptides while the gamma subunits are the product of a distinct gene (GeneID 84572). In the Golgi apparatus the heterohexameric complex catalyzes the first step in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. These recognition markers are essential for appropriate trafficking of lysosomal enzymes. Mutations in this gene have been associated with both mucolipidosis II and mucolipidosis IIIA.[provided by RefSeq May 2010]

Gene Symbol:   GNPTAB
Gene Name:   N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
Aliases:   DKFZp762B226, GNPTA, ICD, KIAA1208, MGC4170
RefSeq:   NC_000012.11 NG_021243.1 NT_029419.12
Ensembl:   ENSG00000111670
Entrez:   79158
UniGene:   Hs.46850
Chromosome Mapping:   12q23.2

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