9号染色体开放阅读框72抗体
规格：1尘驳/1尘濒
英文名： C9orf72
别名： chromosome 9 open reading frame 72; CI072_HUMAN; MGC23980; Uncharacterized protein C9orf72.
分子量： 53kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：笔辞濒测肠濒辞苍补濒
亚型：滨驳骋
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human C9orf72
交叉反应：Human, Mouse, Rat, Chicken, Dog, Pig, Cow, Horse,
细胞定位：细胞核 细胞浆
9号染色体开放阅读框72抗体产物介绍：background: Chromosome 9 consists of about 145 million bases and 4% of the human genome and encodes nearly 900 genes. Considered to play a role in gender determination, deletion of the distal portion of 9p can lead to development of male to female sex reversal, the phenotype of a female with a male X,Y genotype. Hereditary hemorrhagic telangiectasia, which is characterized by harmful vascular defects, is associated with the chromosome 9 gene encoding endoglin protein, ENG. Familial dysautonomia is also associated with chromosome 9 though through the gene IKBKAP. Notably, chromosome 9 encompasses the largest interferon family gene cluster. Chromosome 9 is partnered with chromosome 22 in the translocation leading to the aberrant production of BCR-ABL fusion protein often found in leukemias. The C9orf72 gene product has been provisionally designated C9orf72 pending further characterization. There are two isoforms of C9orf72 that are produced as a result of alternative splicing events. Subcellular Location: Cytoplasm. Nucleus. Note=Detected in the cytoplasm of neurons from post mortem brain tissue (PubMed:21944778). Detected in the nucleus in fibroblasts (PubMed:21944779). Tissue Specificity: Both isoforms are widely expressed, including kidney, lung, liver, heart, testis and several brain regions, such as cerebellum. Also expressed in the frontal cortex and in lymphoblasts (at protein level). DISEASE: Defects in C9orf72 are the cause of frontotemporal dementia and/or amyotrophic lateral sclerosis (FTDALS) [MIM:105550]. An 9号染色体开放阅读框72抗体autosomal dominant neurodegenerative disorder characterized by onset of frontotemporal dementia and/or amyotrophic lateral sclerosis in an affected individual. There is high intrafamilial variation. Frontotemporal dementia is characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Amyotrophic lateral sclerosis is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. Note=Caused by a large expansion of a GGGGCC hexanucleotide within the first C9orf72 intron located between the first and the second non-coding exons. 9号染色体开放阅读框72抗体The expansion leads to the loss of transcription of one of the two transcripts encoding isoform 1 and to the formation of nuclear RNA foci. Gene ID: 203228 Database links: Entrez Gene: 203228 Human Entrez Gene: 73205 Mouse Entrez Gene: 313155 Rat Omim: 614260 Human SwissProt: Q96LT7 Human SwissProt: Q6DFW0 Mouse SwissProt: Q66HC3 Rat Unigene: 493639 Human Unigene: 331544 Mouse Unigene: 233897 Rat Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
9号染色体开放阅读框72抗体产物应用：ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
研究领域：细胞生物 染色质和核信号 神经生物学 转录调节因子
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid