| ELK.No | ES18243 |
| Product name | ARVC rabbit pAb |
| Reactivity | Human; Mouse |
| Applications | WB |
| Other name | Armadillo repeat protein deleted in velo-cardio-facial syndrome |
| Size | 50μL |
| Unit price ($) | 148 |
| Human gene ID | 421 |
| Human Swiss-Prot | O00192 |
| Source | Rabbit |
| Isotype | IgG |
| Target | ARVC |
| Fields | |
| Gene name | ARVCF |
| Protein name | ARVC |
| Human gene link | View Human Gene |
| Human Swiss link | View Human Swiss-Prot |
| Mouse gene ID | 11877 |
| Mouse gene link | View Mouse Gene |
| Mouse Swiss-Prot | P98203 |
| Mouse Swiss link | View Mouse Swiss-Prot |
| Rat gene ID | |
| Rat gene link | |
| Rat Swiss-Prot | |
| Rat Swiss link | |
| Immunogen | Synthesized peptide derived from human ARVC AA range: 563-613 |
| Specificity | This antibody detects endogenous levels of ARVC at Human/Mouse |
| Formulation | Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.257% 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) | |
| Observed band (KD) | 105kD |
| Background | Armadillo Repeat gene deleted in Velo-Cardio-Facial syndrome (ARVCF) is a member of the catenin family. This family plays an important role in the formation of adherens junction complexes, which are thought to facilitate communication between the inside and outside environments of a cell. The ARVCF gene was isolated in the search for the genetic defect responsible for the autosomal dominant Velo-Cardio-Facial syndrome (VCFS), a relatively common human disorder with phenotypic features including cleft palate, conotruncal heart defects and facial dysmorphology. The ARVCF gene encodes a protein containing two motifs, a coiled coil domain in the N-terminus and a 10 armadillo repeat sequence in the midregion. Since these sequences can facilitate protein-protein interactions ARVCF is thought to function in a protein complex. In addition, ARVCF contains a predicted nuclear-targeting sequence suggesting that it may have a function as a nuclear protein. [provided by RefSeq, Jun 2010], |
| Function | disease:Gene deleted in velo-cardio-facial syndrome (VCFS); it is hemizygous in all VCFS patients with interstitial deletions. This hemizygosity may play a role in the etiology of some of the phenotypes associated with VCFS characterized by a wide spectrum phenotypes, including conotruncal heart defects, cleft palate and facial dysmorphology.,function:Involved in protein-protein interactions at adherens junctions.,similarity:Belongs to the beta-catenin family.,similarity:Contains 10 ARM repeats.,tissue specificity:Found in all the examined tissues including heart, brain, liver and kidney. Found at low level in lung., |
| Subcellular location | Cell junction . |
| Expression | Found in all the examined tissues including heart, brain, liver and kidney. Found at low level in lung. Expressed in dermal connective tissue, salivary gland duct and in the corneal layer (at protein level) (PubMed:30479852). Expressed in arrector pili muscle (at protein level) (PubMed:29034528). |

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