PrimePCR™ Probe Assay: HEXA, Human

RT

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

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PrimePCR™ PreAmp for Probe Assay: HEXA, Human
Reaction:     400 reactions
Gene-specific PCR primers for the unbiased preamplification of small quantities of cDNA for subsequent use in downstream gene expression analysis.

PrimePCR™ Template for Probe Assay: HEXA, Human
Reaction:     200 x 20 µl reactions
Gene-specific synthetic DNA template designed to give a positive real-time PCR result when used with the corresponding probe assay.


Wet Lab Validated

Assay Information

Technology:   qPCR
Assay Type:   Probe
Application:   Gene Expression
Unique Assay ID:   qHsaCIP0031203
Assay Design:   Intron-spanning
Chromosome Location:   15:72641559-72642969question
Amplicon Length:   123
Splice Variants Targeted:   ENST00000268097 ENST00000429918 ENST00000457859

Gene Information

This gene encodes the alpha subunit of the lysosomal enzyme beta-hexosaminidase that together with the cofactor GM2 activator protein catalyzes the degradation of the ganglioside GM2 and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits alpha and beta which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Alpha subunit gene mutations lead to Tay-Sachs disease (GM2-gangliosidosis type I). [provided by RefSeq Jul 2009]

Gene Symbol:   HEXA
Gene Name:   hexosaminidase A (alpha polypeptide)
Aliases:   MGC99608, TSD
RefSeq:   NC_000015.9 NG_009017.1 NT_010194.17
Ensembl:   ENSG00000213614
Entrez:   3073
Chromosome Mapping:   15q24.1

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