| ELK.No | ES17460 |
| Product name | CI072 rabbit pAb |
| Reactivity | Human; Mouse;Rat |
| Applications | WB |
| Other name | |
| Size | 100μL |
| Unit price ($) | 248 |
| Human gene ID | 203228 |
| Human Swiss-Prot | Q96LT7 |
| Source | Rabbit |
| Isotype | IgG |
| Target | CI072 |
| Fields | >>Autophagy - animal;>>Amyotrophic lateral sclerosis;>>Pathways of neurodegeneration - multiple diseases |
| Gene name | C9orf72 |
| Protein name | CI072 |
| Human gene link | View Human Gene |
| Human Swiss link | View Human Swiss-Prot |
| Mouse gene ID | |
| Mouse gene link | |
| Mouse Swiss-Prot | Q6DFW0 |
| Mouse Swiss link | View Mouse Swiss-Prot |
| Rat gene ID | 313155 |
| Rat gene link | View Rat Gene |
| Rat Swiss-Prot | Q66HC3 |
| Rat Swiss link | View Rat Swiss-Prot |
| Immunogen | Synthesized peptide derived from human CI072 AA range: 188-238 |
| Specificity | This antibody detects endogenous levels of CI072 at Human/Mouse/Rat |
| Formulation | Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide. |
| Clonality | Polyclonal |
| Dilution | WB 1:500-2000 |
| Purification | The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen. |
| Concentration | 1 mg/ml |
| Storage stability | -20°C/1 year |
| Molecular Weight (Da) | 53kD |
| Observed band (KD) | |
| Background | The protein encoded by this gene plays an important role in the regulation of endosomal trafficking, and has been shown to interact with Rab proteins that are involved in autophagy and endocytic transport. Expansion of a GGGGCC repeat from 2-22 copies to 700-1600 copies in the intronic sequence between alternate 5' exons in transcripts from this gene is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778, 21944779). Studies suggest that hexanucleotide expansions could result in the selective stabilization of repeat-containing pre-mRNA, and the accumulation of insoluble dipeptide repeat protein aggregates that could be pathogenic in FTD-ALS patients (PMID: 23393093). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2016], |
| Function | |
| Subcellular location | Nucleus . Cytoplasm . Cytoplasm, P-body . Cytoplasm, Stress granule . Endosome . Lysosome . Cytoplasmic vesicle, autophagosome . Secreted . Cell projection, axon . Cell projection, growth cone . Perikaryon . Detected in the cytoplasm of neurons from brain tissue (PubMed:21944778). Detected in the nucleus in fibroblasts (PubMed:21944779). During corticogenesis, transitions from being predominantly cytoplasmic to a more even nucleocytoplasmic distribution (By similarity). .; [Isoform 1]: Perikaryon . Cell projection, dendrite . Cell junction, synapse, presynapse . Cell junction, synapse, postsynapse . Expressed diffusely throughout the cytoplasm and dendritic processes of cerebellar Purkinje cells. Also expressed diffusely throughout the cytoplasm of spinal motor neurons. .; [Isoform 2]: Nuc |
| Expression | 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). |

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