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Key Specifications Table
| Species Reactivity | Key Applications | Host | Format | Antibody Type |
|---|---|---|---|---|
| H, M, R, Mk | ELISA, ICC, IHC, IP, WB | M | Ascites | Monoclonal Antibody |
| Description | |
|---|---|
| Catalogue Number | MAB5360 |
| Brand Family | Chemicon® |
| Trade Name |
|
| Description | Anti-Spinocerebellar Ataxia Type 3 Antibody, clone 1H9 |
| Alternate Names |
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| Background Information | Spinocerebellar ataxia (SCA) is a genetic disease with multiple types, each of which could be considered a disease in its own right. Spinocerebellar ataxia (SCA) is one of a group of genetic disorders characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs. The first ataxia gene was identified in 1993 for a dominantly inherited type called “Spinocerebellar ataxia type 1" (SCA1). Subsequently, as additional dominant genes were found they were called SCA2, SCA3, etc. Usually, the "type" number of "SCA" refers to the order in which the gene was found. At this time, there are at least 29 different gene mutations which have been found. |
| Product Information | |
|---|---|
| Format | Ascites |
| Control |
|
| Presentation | Ascites fluid containing no preservatives. |
| Quality Level | MQ100 |
| Applications | |
|---|---|
| Application | Detect Spinocerebellar Ataxia Type 3 using this Anti-Spinocerebellar Ataxia Type 3 Antibody, clone 1H9 validated for use in ELISA, IC, IH, IP & WB. |
| Key Applications |
|
| Application Notes | Immunohistochemistry: A 1:500-1:5000 dilution of a previous lot was used in IH. Immunoprecipitation: A 1:500-1:5000 dilution of a previous lot was used in IP. ELISA: A 1:500-1:5000 dilution of a previous lot was used in ELISA. Immunocytochemistry: A 1:500-1:5000 dilution of a previous lot was used in IC. Optimal working dilutions must be determined by the end user. |
| Biological Information | |
|---|---|
| Immunogen | Human ataxin-3 fragment from aa F112-L249 as a fusion protein |
| Clone | 1H9 |
| Concentration | Please refer to the Certificate of Analysis for the lot-specific concentration. |
| Host | Mouse |
| Specificity | Ataxin-3. The epitope was mapped precisely at E214-L233. MAB5360 can be used to study wild type ataxin-3 and the mutant form with polyglutamine expansion found in patients affected with spinocerebellar ataxin type 3/Machado-Joseph disease (SCA3/MJD). In analysis of human tissues by Western blot, MAB5360 releaved several isoforms of ataxin-3 (presumably generated by alternative splicing, Trottier et Al. 1998). The antibody detected polyglutamine aggregate (or nuclear inclusions) by IHC on SCA-3/MJD brain sections (Paulson et Al. 1997). |
| Isotype | IgG1 |
| Species Reactivity |
|
| Antibody Type | Monoclonal Antibody |
| Entrez Gene Number |
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| Entrez Gene Summary | Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this 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 a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. |
| Gene Symbol |
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| Purification Method | Unpurified |
| UniProt Number |
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| UniProt Summary | FUNCTION: SwissProt: P54252 # Interacts with key regulators (CBP, p300 and PCAF) of transcription and represses transcription. Acts as a histone- binding protein that regulates transcription. Acts as a deubiquitinating enzyme. SIZE: 376 amino acids; 43450 Da SUBUNIT: Interacts with DNA repair proteins RAD23A and RAD23B. SUBCELLULAR LOCATION: Nucleus matrix. Note=Predominantly nuclear, but not exclusively, inner nuclear matrix. TISSUE SPECIFICITY: Ubiquitous. DISEASE: SwissProt: P54252 # Defects in ATXN3 are the cause of spinocerebellar ataxia 3 (SCA3) [MIM:109150]; also known as Machado-Joseph disease (MJD). Spinocerebellar ataxia is a clinically and genetically heterogeneous group of autosomal dominant cerebellar ataxias (ADCA). Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements. Spinocerebellar ataxias are caused by degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. Three clinical types are distinguished, according to the extent of extra-cerebellar signs: cerebellar ataxia with additional features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia, is known ADCA type I; cerebellar ataxia with retinal degeneration and pigmentary macular dystrophy is defined as ADCA type II; pure cerebellar ataxia without additional signs is classified as ADCA type III. SCA3 is clinically classified as ADCA type I. The molecular defect in SCA3 is the a CAG repeat expansion in ATX3 coding region. Longer expansions result in earlier onset and more severe clinical manifestations of the disease. SIMILARITY: SwissProt: P54252 ## Contains 1 Josephin domain. & Contains 3 UIM (ubiquitin-interacting motif) repeats. |
| Molecular Weight | 44 kDa |
| Product Usage Statements | |
|---|---|
| Quality Assurance | Evaluated by Western Blot on NIH/3T3 lysates. Western Blot Analysis: 1:500 dilution of this antibody detected SPINOCEREBELLAR ATAXIA 3 on 10 µg of NIH/3T3 lysates. |
| Usage Statement |
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| Storage and Shipping Information | |
|---|---|
| Storage Conditions | Stable for 1 year at -20ºC from date of receipt. |
| Packaging Information | |
|---|---|
| Material Size | 100 µL |