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Key Specifications Table
| Species Reactivity | Key Applications | Host | Format | Antibody Type |
|---|---|---|---|---|
| H, R, M | ICC, IHC, WB | M | Culture Supernatant | Monoclonal Antibody |
| Description | |
|---|---|
| Catalogue Number | MAB5374 |
| Brand Family | Chemicon® |
| Trade Name |
|
| Description | Anti-Huntingtin Protein Antibody, clone mEM48 |
| Alternate Names |
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| Background Information | Huntington disease (HD) is a hereditary, progressive, neurodegenerative ailment characterized by personality changes, motor impairment and subcortical dementia. The molecular basis of the disease involves the expansion of the trinucleotide CAG, coding for polyglutamine in the first exon of a chromosome four gene (4p16.3), which normally produces a widely expressed 3136 a.a. (~350 kDa) protein huntingtin with unclear function. The protein is found in the perinuclear region along with microtubules, and in the centrosomal region along with gamma-tubulin. Huntingtin is necessary for neuronal survival and is involved in synaptic vesicle trafficking, microtubule binding and may also have a role in apoptosis. In the HD condition, neuronal cells with the mutant form of huntingtin possess intranuclear aggregations of the N-terminal fragment, causing damaging inclusions in perinuclear locations and striatal neuron cell death. Wild-type huntington and anti-huntingtin reduce aggregation and cellular toxicity of the mutant huntingtin form in mammalian cell models of HD. Huntingtin is known to interact with GAPDH, HAP-1, SP1 and TAFII130. |
| Product Information | |
|---|---|
| Format | Culture Supernatant |
| Control |
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| Presentation | Culture Supernatant mouse monoclonal IgG containing no preservative. |
| Quality Level | MQ100 |
| Applications | |
|---|---|
| Application | Detect Huntingtin Protein using this Anti-Huntingtin Protein Antibody, clone mEM48 validated for use in IC, IH & WB. |
| Key Applications |
|
| Application Notes | Immunohistochemistry: 1:50-1:100 of a previous lot using ABC on 4% paraformaldehyde fixed tissue. Suggested dilution buffer is PBS containing 3% BSA. The antibody works on paraffin embedded tissue sections. Suggested dilution buffer is PBS containing 3% BSA. The antibody works on paraffin embedded tissue sections. Yu, Z et al (2002) Hum. Mole. Genetics 11(8):905-914. (http://hmg.oxfordjournals.org/cgi/content/full/11/8/905) for good IHC methods and photos of mEM48 on rodent tissues with human transgenic material. Immunocytochemistry: light 4% PFA fixation followed by 0.1% triton X-100 incubation prior to blocking is suggested. A previous lot of this antibody was used in IC. Western blot: 1:50-1:500 using ECL depending on the level of mutant protein. Suggested dilution buffer is PBS containing 3% BSA or PBS containing 5% non-fat milk. Nuclear fraction preparations enhance signals; monomeric protein ~80kDa; aggregates are common which can be > 200kDa in size. Optimal working dilutions must be determined by the end user. |
| Biological Information | |
|---|---|
| Immunogen | GST fusion protein from the first 256 amino acids from human huntingtin with the deletion of the polyglutamine tract. |
| Clone | mEM48 |
| Concentration | Please refer to the Certificate of Analysis for the lot-specific concentration. |
| Host | Mouse |
| Specificity | Reacts with human huntingtin protein (both native and recombinant protein). MAB5374 reacts with mutant huntingtin in patients and in transgenic animals that express different numbers of repeats (from 82 to 150 glutamines). Thus, it should recognize different forms of mutant huntingtin. |
| Isotype | IgG |
| Species Reactivity |
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| Species Reactivity Note | Expected to react with mouse, and rat based on sequence homology. |
| Antibody Type | Monoclonal Antibody |
| Entrez Gene Number |
|
| Entrez Gene Summary | Huntingtin is a disease gene linked to Huntingtons disease, a neurodegenerative disorder characterized by loss of striatal neurons. This is thought to be caused by an expanded, unstable trinucleotide repeat in the huntingtin gene, which translates as a polyglutamine repeat in the protein product. A fairly broad range in the number of trinucleotide repeats has been identified in normal controls, and repeat numbers in excess of 40 have been described as pathological. The huntingtin locus is large, spanning 180 kb and consisting of 67 exons. The huntingtin gene is widely expressed and is required for normal development. It is expressed as 2 alternatively polyadenylated forms displaying different relative abundance in various fetal and adult tissues. The larger transcript is approximately 13.7 kb and is expressed predominantly in adult and fetal brain whereas the smaller transcript of approximately 10.3 kb is more widely expressed. The genetic defect leading to Huntingtons disease may not necessarily eliminate transcription, but may confer a new property on the mRNA or alter the function of the protein. One candidate is the huntingtin-associated protein-1, highly expressed in brain, which has increased affinity for huntingtin protein with expanded polyglutamine repeats. This gene contains an upstream open reading frame in the 5 UTR that inhibits expression of the huntingtin gene product through translational repression. |
| Gene Symbol |
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| Purification Method | Unpurified |
| UniProt Number |
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| UniProt Summary | FUNCTION: SwissProt: P42858 # May play a role in microtubule-mediated transport or vesicle function. SIZE: 3144 amino acids; 347860 Da SUBUNIT: Binds SH3GLB1 (By similarity). Interacts through its N- terminus with FNBP3. Interacts with PQBP1, SETD2 and SYVN. SUBCELLULAR LOCATION: Cytoplasm. Nucleus. TISSUE SPECIFICITY: Widely expressed with the highest level of expression in the brain (nerve fibers, varicosities, and nerve endings). In the brain, the regions where it can be mainly found are the cerebellar cortex, the neocortex, the striatum, and the hippocampal formation. PTM: Cleaved by apopain downstream of the polyglutamine stretch. The resulting amino-terminal fragment is cytotoxic and provokes apoptosis. & Forms with expanded polyglutamine expansion are specifically ubiquitinated by SYVN1, which promotes their proteasomal degradation. DISEASE: SwissProt: P42858 # Defects in HD are the cause of Huntington disease (HD) [MIM:143100]. HD is an autosomal dominant neurodegenerative disorder characterized by involuntary movements (chorea), general motor impairment, psychiatric disorders and dementia. Onset of the disease occurs usually in the third or fourth decade of life and symptoms progressively worsen leading to death in 10 to 20 years. Onset and clinical course depend on the degree of poly-Gln repeat expansion, longer expansions resulting in earlier onset and more severe clinical manifestations. HD affects 1 in 10,000 individuals of European origin. Neuropathology of Huntington disease displays a distinctive pattern with loss of neurons, especially in the caudate and putamen (striatum). SIMILARITY: SwissProt: P42858 ## Belongs to the hungtintin family. & Contains 10 HEAT repeats. |
| Molecular Weight | over 200 kDa |
| Product Usage Statements | |
|---|---|
| Quality Assurance | Routinely evaluated by Western Blot on HEK293 lysates. Western Blot Analysis: 1:1000 dilution of this lot detected Huntingtin Protein on 10 μg of HEK293 lysates. |
| Usage Statement |
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| Storage and Shipping Information | |
|---|---|
| Storage Conditions | Stable for 6 months at -20ºC in undiluted aliquots from date of receipt. Handling Recommendations: Upon receipt, and prior to removing the cap, centrifuge the vial and gently mix the solution. Aliquot into microcentrifuge tubes and store at -20°C. Avoid repeated freeze/thaw cycles, which may damage IgG and affect product performance. |
| Packaging Information | |
|---|---|
| Material Size | 100 µL |