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Home TrueClone ATXN7 Clone

ATXN7 (NM_001177387) Human cDNA Clone

Specifications Citations Clones of Other Species Product Documents
SKU Description Price Availibility*  
SC329227 ATXN7 (untagged)-Human ataxin 7 (ATXN7) transcript variant SCA7b (10ug), NM_001177387.1, 10ug $1700 7 weeks
TF81001 TurboFectin, High performance Transfection reagent (1ml/vial) $420 In Stock
TT200002 MegaTran 1.0 (0.5ml), 165 rxns for 24-well plates, 0.5ml $90 In Stock
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OriGene Data
Vector:pCMV6-XL5 Insert Size: Restriction Site:
Sequence Data: Fully Sequenced ORF          5' Read Nucleotide Sequence         
OTI Annotation: This TrueClone is provided through our Custom Cloning Process that includes sub-cloning into OriGene's pCMV6 vector and full sequencing to provide a non-variant match to the expected reference without frameshifts, and is delivered as lyophilized plasmid DNA
OTI Disclaimer: Our molecular clone sequence data has been matched to the reference identifier above as a point of reference. Note that the complete sequence of our molecular clones may differ from the sequence published for this corresponding reference, e.g., by representing an alternative RNA splicing form or single nucleotide polymorphism (SNP).
Product Components: The cDNA clone is shipped in a 2-D bar-coded Matrix tube as dried plasmid DNA. The package also includes 100 pmols of both the corresponding 5' and 3' vector primers in separate vials. Every lot of primer is tested to provide clean sequencing of OriGene TrueClones.
Reference Data
RefSeq: NM_001177387.1, NP_001170858
RefSeq Size: RefSeq ORF: 2837
Synonyms : ADCAII; OPCA3; SCA7
LocusID: 6314 Cytogenetic: 3p21.1-p12
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. 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].

Transcript Variant: This variant (SCA7b) includes an alternate exon that causes a frameshift in the 3' coding region, compared to variant SCA7a, resulting in an isoform (b) with a distinct and longer C-terminus, compared to isoform a. The 5' UTR is incomplete in this variant due to the presence of alternate splicing choices further upstream. There are no publicly available full-length transcripts representing this variant; it is represented based on data in PMID:12533095.

* Delivery time is an estimate in business days. Occasional delays may occur due to unforeseen complexities in the preparation of your construct. International customers may expect an additional 1-2 weeks in shipping

 

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