PrimePCR™ ddPCR™ Expression Probe Assay: GM2A, 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 qHsaCIP0030046; Intron-spanning

Fluorophore:   HEX
List Price:    $201.00
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Assay Information

Technology:   ddPCR
Assay Type:   Probe
Application:   Gene Expression
Unique Assay ID:   dHsaCPE5053425
Chromosome Location:   5:150639398-150646389question
Amplicon Length:   148

Gene Information

This gene encodes a small glycolipid transport protein which acts as a substrate specific co-factor for the lysosomal enzyme beta-hexosaminidase A. Beta-hexosaminidase A together with GM2 ganglioside activator catalyzes the degradation of the ganglioside GM2 and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene result in GM2-gangliosidosis type AB or the AB variant of Tay-Sachs disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq Nov 2009]

Gene Symbol:   GM2A
Gene Name:   GM2 ganglioside activator
Aliases:   GM2-AP, SAP-3
RefSeq:   NC_000005.9 NG_009059.1 NT_029289.11
Ensembl:   ENSG00000196743
Entrez:   2760
UniGene:   Hs.483873
Chromosome Mapping:   5q33.1

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