PrimePCR™ Probe Assay: PYGL, 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: PYGL, 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: PYGL, 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:   qHsaCIP0031423
Assay Design:   Intron-spanning
Chromosome Location:   14:51390793-51398477question
Amplicon Length:   83
Splice Variants Targeted:   ENST00000532462 ENST00000216392 ENST00000544180

Gene Information

This gene encodes a homodimeric protein that catalyses the cleavage of alpha-14-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phosphorylase B to active phosphorylase A by phosphorylation of serine residue 15. Activity of this enzyme is further regulated by multiple allosteric effectors and hormonal controls. Humans have three glycogen phosphorylase genes that encode distinct isozymes that are primarily expressed in liver brain and muscle respectively. The liver isozyme serves the glycemic demands of the body in general while the brain and muscle isozymes supply just those tissues. In glycogen storage disease type VI also known as Hers disease mutations in liver glycogen phosphorylase inhibit the conversion of glycogen to glucose and results in moderate hypoglycemia mild ketosis growth retardation and hepatomegaly. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq Feb 2011]

Gene Symbol:   PYGL
Gene Name:   phosphorylase, glycogen, liver
Aliases:   GSD6
RefSeq:   NC_000014.8 NT_026437.12 NG_012796.1
Ensembl:   ENSG00000100504
Entrez:   5836
Chromosome Mapping:   14q21-q22

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