ATXN3 (Ataxin 3), also known as AT3, MJD GENE, MJD1, SCA3 GENE, ATX3, JOS, Spinocerebellar ataxia-3, Machado-Joseph disease protein 1, is a protein that in humans is encoded by the ATXN3 gene.
ATXN3 ranges in size from 360aa-374aa.
Using Northern blot analysis showed that ATXN3 mRNA was ubiquitously expressed in human tissues.
They detected at least 4 ATXN3 transcripts of 1.4, 1.8, 4.5, and 7.5 kb and suggested that the different mRNA species probably result from differential splicing and polyadenylation.
Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder.
The protein encoded by the ATXN3 gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 13-36 to 68-79 is the cause of Machado-Joseph disease.
There is an inverse correlation between the age of onset and CAG repeat numbers.
Alternatively spliced transcript variants encoding different isoforms have been described for this gene.
Ataxin-3 interacted with 2 human homologs of the yeast DNA repair protein RAD23, HHR23A (RAD23A) and HHR23B (RAD23B).
Both normal and mutant ataxin-3 proteins interacted with the ubiquitin-like domain at the N terminus of the HHR23 proteins, which is a motif important for nucleotide excision repair.
However, in HEK 293 cells, HHR23A was recruited to intranuclear inclusions formed by the mutant ataxin-3 through its interaction with ataxin-3.
Applications:Suitable for use in Western Blot and Immunohistochemistry.
Other applications not tested.
Recommended Dilution:Western Blot: 0.1-0.5ug/mlImmunohistochemistry (paraffin): 0.5-1ug/ml, boiling the paraffin sections in 10mM citrate buffer, pH 6.0, for 20 mins is required for the staining of formalin/paraffin sections
Optimal dilutions to be determined by the researcher.
Storage and Stability:Lyophilized powder may be stored at -20°C.
Stable for 12 months after receipt at -20°C.
Reconstitute with sterile ddH2O.
Aliquot to avoid repeated freezing and thawing.
Store at -20°C.
Reconstituted product is stable for 12 months at -20°C.
For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.
Further dilutions can be made in assay buffer.
仕様
Size：100ug
Host：rabbit
Source Antibody：human
Grade：Affinity Purified
Purity：Purified by immunoaffinity chromatography.
Form：Supplied as a lyophilized powder from PBS, 5% BSA, 0.05% sodium azide. Reconstitute with 200ul sterile dH2O.
Specificity：Recognizes human Ataxin 3. Species Crossreactivity: rat
Isotype：IgG
Calc Applications Abbrev：IHC WB
Calc Crossreactivity：Hu Rt
Immunogen：Synthetic peptide corresponding to aa226-254, EEDLQRALALSRQEIDMEDEEADLRRAIQ, from human Ataxin 3 at C-terminus, different from the related mouse and rat sequences by 2aa.
Shelf Life：1year
Swiss Prot Number：P54252
EU Commodity Code：30021010
商品名：Ataxin 3, CT (AT3, Ataxin-3, ATX3, ATX3_HUMAN, ATXN3, JOS, Josephin, Machado Joseph Disease (Spinocerebellar Ataxia 3, Olivopontocerebellar Ataxia 3, Autosomal Dominant, Ataxin 3), Machado Joseph Disease, Machado Joseph Disease Protein 1, Machado-Joseph Disease Protein 1, Machado-Joseph Disease Protein 1 Homolog, MJD, MJD Gene, MJD1, Olivopontocerebellar Ataxia 3, Rsca3, SCA3, SCA3 Gene, Spinocerebellar Ataxia Type 3 Protein) 100ug
