PrimePCR™ Probe Assay: ATXN7, Human


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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Assay Information

Technology:   qPCR
Assay Type:   Probe
Application:   Gene Expression
Unique Assay ID:   qHsaCEP0024914
Assay Design:   Exonic
Chromosome Location:   3:63981765-63981904question
Amplicon Length:   110
Splice Variants Targeted:   ENST00000295900 ENST00000487717 ENST00000484332 ENST00000398590 ENST00000538065 ENST00000539129

Gene Information

The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum brain stem and spinal cord. Clinically ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous with five genetic loci designated spinocerebellar ataxia (SCA) 1 2 3 4 and 6 being assigned to five different chromosomes. ADCAII which always presents with retinal degeneration (SCA7) and ADCAIII often referred to as the 'pure' cerebellar syndrome (SCA5) are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable usually increasing in size when transmitted to successive generations. This locus has been mapped to chromosome 3 and it has been determined that the diseased allele associated with spinocerebellar ataxia-7 contains 38-130 CAG repeats (near the N-terminus) compared to 7-17 in the normal allele. The encoded protein is a component of the SPT3/TAF9/GCN5 acetyltransferase (STAGA) and TBP-free TAF-containing (TFTC) chromatin remodeling complexes and it thus plays a role in transcriptional regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq Apr 2010]

Gene Symbol:   ATXN7
Gene Name:   ataxin 7
Aliases:   ADCAII, FLJ17787, OPCA3, SCA7
RefSeq:   NC_000003.11 NG_008227.1 NT_022517.18
Ensembl:   ENSG00000163635
Entrez:   6314
UniGene:   Hs.729041
Chromosome Mapping:   3p21.1-p12

The below validation information is for the Primer Pair only   Download Validation Data (.pdf)

Products used to generate validation data:

Real-Time PCR Instrument CFX384 Real-Time PCR Detection System
Reverse Transcription Reagent iScript™ Advanced cDNA Synthesis Kit for RT-qPCR
Real-Time PCR Supermix SsoAdvanced™ SYBR® Green Supermix
Experimental Sample qPCR Human Reference Total RNA

Summary Data:

R2 0.999800
y-intercept 35.340000
Efficiency 97

Amplification Plot
Amplification of cDNA generated from universal RNA.

Amplification of cDNA generated from universal RNA.

Melt Peak
Melt curve analysis of above amplification.

Melt curve analysis of above amplification.

Standard Curve
Standard curve generated using 20 million copies of template diluted 10 fold to 20 copies.

Standard curve generated using 20 million copies of template diluted 10 fold to 20 copies.

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