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Validated All-in-One™ qPCR Primer for ATXN2(NM_002973.3) Search again
Product ID:
HQP108943
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
ATX2, SCA2, TNRC13
Gene Description:
ataxin 2
Target Gene Accession:
NM_002973.3(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Validated result:
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| A | B |
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Each All-in-One™ qPCR Primer is experimentally validated to yield a single dissociation curve peak and to generate a single amplification of the correct size for the targeted gene. A cDNA Pool, containing reverse transcript products of 8 different human tissue total RNA(Liver, Testis,Muscle,Thyroid,Brain,Spleen,Stomach,Small Intestine)),was used as the qPCR validation template. qPCR was performed using 0.2 µM primer with 2XAll-in-One™ qPCR Mix (Catalog#: QP001,QP002,QP004,QP005). Reactions were incubated for 10min. at 95°C, followed by 40 cycles of 95°C for 10 sec.; 60°C, 20 sec. and 72°C, 15sec. using Bio-Rad iQ5™ Instrument. At the end of the last cycle, temperature was increased from 72 to 95°C to produce a melting curve. Panel A: Validated Result for Amplification Curve; Panel B: Validated Result for Melting Curve. |
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Summary
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. Defects in this gene are the cause of spinocerebellar ataxia type 2 (SCA2). SCA2 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA2 is caused by expansion of a CAG repeat in the coding region of this gene. Longer expansions result in earlier onset of the disease. Alternatively spliced transcript variants encoding different isoforms have been identified but their full length sequence has not been determined.
Gene References into function
- Identification of two novel single nucleotide polymorphisms (SNPs) in exon 1 of the SCA2 gene. The two biallelic SNPs distinguished two haplotypes, GT and CC.
- The SCA2 gene maps to chromosome 12q24 and the causative mutation involves the expansion of a CAG repeat within the coding region of the gene.
- dysregulation of actin cytoskeletal structure resulting from altered ataxin-2 activity may be responsible for neurodegeneration in SCA2
- ataxin-2 has an important role in regulating the susceptibility of neuroblastoma cells to apoptotic stimuli in vitro and in vivo
- SCA2 mutations may be responsible for a subset of familial parkinsonism.
- The significance of SCA2 mutation in either sporadic or familial young-onset dopa-responsive parkinsonism suggestive of Parkinson's disease is not proven in a population of 85 Serbian patients.
- This study observed significant volume loss in the cerebellar hemispheres, vermis, pons, mesencephalon and thalamus. also affected the right orbito-frontal cortex, right temporo-mesial cortex and the primary sensorimotor cortex bilaterally.
- no significant difference when APOE and SCA2 allele frequencies of cases and controls were compared for multiple sclerosis
- exploration of protein architectures of ataxin-2 and ataxin-3
- SCA2 genotypes in a Polish population are significantly different in allele spectra & frequencies from other populations. The dynamic mutation of SCA2 may begin from the expansion of long pure repeat tracts without the prior loss of interruptions.
- the properties of the CAA interruptions are major determinants of the CAG repeat folding in the normal SCA2 transcripts.
- ATX2 and poly(A)-binding protein (PABC) co-localize in mammalian cells, remarkably, even under conditions in which PABP accumulates in distinct cytoplasmic foci representing sites of mRNA triage
- presence of significant floccular atrophy compared with controls in both ataxin-2 and Ca(V)2.1 mutations
- our analysis showed that all SCA2 mutations carriers had the same ataxin 2 haplotype: haplotype B, which accounts for only 15% of control haplotypes, implying that there is a common founder for all Taiwanese SCA2 patients
- There is an interplay between ataxin-2, endophilin proteins and huntingtin in plastin-associated cellular pathways.
- A recent positive selection of the pre-expansion SCA2 CAG repeat has occurred in Utah residents with European ancestry.
- ATX2 plays a direct role in translational regulation, and polyglutamine expansions within ataxin-2 may cause neurodegeneration by interfering with the translational regulation of particular mRNAs.
- the molecular intrinsic structure of the expanded allele may modulate the phenotypic expression of the SCA2 mutation.
- To investigate the role of SCA2 and SCA3 mutations in Chinese familial and early-onset Parkinson's disease (PD) patients, CAG triplet repeat expansions of SCA2 and SCA3 genes in 73 Taiwanese/Ethnic Chinese PD patients was analyzed.
- We determined the prevalence of SCA2 and SCA3 mutations in a cohort of ET and atypical Parkinsonism patients.
- Molecular testing for spinocerebellar ataxia type 2 revealed abnormal "cytosineadenine-guanosine" expansion in all affected family members.
- SCA2 gene dosage influences the age of onset for Spinocerebellar Ataxia Type 2 [case report]
- SCA2 is one of the genetic causes of Parkinson disease and multiple system atrophy
- Data show that SCA1, 2 and 3 accounted for more than one third of the ataxia cases seen in the clinic, and in cases with established family history and autosomal dominant inheritance SCA1 was most prevalent followed by SCA2 and SCA3.
- Homozygous SCA2 patients develop levodopa responsive Parkinsonism and dyskinesia and motor fluctuations suggesting a pre-synaptic lesion and eventually progress to dementia with psychosis and ataxia. Slow eye movements are absent at onset but appear late
- These data implicate ataxin-2 to play a role in endocytic receptor cycling.