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品种反应性 主要应用 宿主 格式 抗体类型 R, H IHC, WB M Purified Monoclonal Antibody 描述 产品目录编号 MABN60 Replaces MAB5492 描述 Anti-Huntingtin Antibody, clone 4A4.2 Alternate Names - HD protein
- Huntingtin
- Huntington disease protein
背景信息 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. Huntingtin is known to interact with GAPDH, HAP-1, SP1 and TAFII130. 产品信息 格式 Purified 控制 - Rat brain tissue lysate
演示 Purified mouse monoclonal IgG2aκ in buffer containing 0.1 M Tris-Glycine (pH 7.4), 150 mM NaCl with 0.05% sodium azide. 应用 应用 This Anti-Huntingtin Antibody, clone 4A4.2 is validated for use in WB, IH for the detection of Huntingtin. 主要应用 - Immunohistochemistry
- Western Blotting
应用说明 Immunohistochemistry Analysis: 1:400 dilution of this antibody from a representative lot detected Huntingtin in the neurons and glial cells of the normal human brain. 生物信息 免疫原品种 Recombinant protein corresponding to human Huntingtin. 克隆 4A4.2 浓缩 Please refer to the Certificate of Analysis for the lot-specific concentration. 宿主 Mouse 同种型 IgG2aκ 品种反应性 RatHuman Species Reactivity Note Demonstrated to react with Human and Rat. 抗体类型 Monoclonal Antibody Entrez基因编号 - NP_002102
Entrez基因汇总 Huntingtin is a disease gene linked to Huntington's 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 Huntington's 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. [provided by RefSeq]. 基因符号 - IT15
- HTT
- HD
纯化方法 Protein G UniProt编号 - P42858
UniProt汇总 FUNCTION: 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: 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: Belongs to the hungtintin family. & Contains 10 HEAT repeats.产品使用声明 质量保证 Evaluated by Western Blot in rat brain tissue lysate.
Western Blot Analysis: 0.5 µg/mL of this antibody detected Huntingtin on 10 µg of rat brain tissue lysate.使用声明 - Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.
储存和货运信息 存储条件 Stable for 1 year at 2-8°C from date of receipt. 包装信息 数量 100 µg
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