U-Blot® TMEM43 Rabbit mAb
Price range: $268.00 through $328.00
Product details
Background:This gene belongs to the TMEM43 family. Defects in this gene are the cause of familial arrhythmogenic right ventricular dysplasia type 5 (ARVD5), also known as arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC5). Arrhythmogenic right ventricular dysplasia is an inherited disorder, often involving both ventricles, and is characterized by ventricular tachycardia, heart failure, sudden cardiac death, and fibrofatty replacement of cardiomyocytes. This gene contains a response element for PPAR gamma (an adipogenic transcription factor), which may explain the fibrofatty replacement of the myocardium, a characteristic pathological finding in ARVC. [provided by RefSeq, Oct 2008]
Specifications
| Size | 50μL/100μL |
| Target | TMEM43 |
| Reactivity | Human, Mouse, Rat |
| Applications | WB, IHC |
| MW(Calculated) | 44kD |
| MW(Observed) | 44kD |
| Host Species | Rabbit |
| Isotype | IgG,Kappa |
| Conjugate/Modification | Unmodified |
| Recommended Dilution Ratio | IHC 1:200-1:1000; WB 1:1000-1:5000; / Note: For IHC, we suggest antigen retrieval with TE buffer pH 9.0 (Cat#WT1004) |
| Formulation | PBS, 50% glycerol, 0.05% Proclin 300, 0.05%BSA |
| Purification | Recombinant Antibody expressed in animal component-free (ACF) media, purified via Protein A affinity chromatography. |
| Storage | -15°C to -25°C/1 year(Do not lower than -25°C) |
| Concentration | |
| Clonality | Monoclonal |
| Clone Number | RM1120R |
| Immunogen | The specific immunogen used to produce this antibody is proprietary information. |
| Specificity | Endogenous |
| Gene Name | TMEM43,UNQ2564/PRO6244 |
| Protein Name | Transmembrane protein 43 (Protein LUMA) |
| Other Name | |
| Species | Human |
| Gene ID | 79188 |
| Uniprot | Q9BTV4, |
| Species.1 | Mouse |
| Gene ID.1 | 74122 |
| Uniprot.1 | Q9DBS1 |
| Species.2 | |
| Gene ID.2 | |
| Uniprot.2 | |
| Cellular Localization | SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:32614325}. Nucleus inner membrane; Multi-pass membrane protein. Cell membrane {ECO:0000269|PubMed:34050020}. Note=Retained in the inner nuclear membrane through interaction with EMD and A- and B-lamins. The N- and C-termini are oriented towards the nucleoplasm. The majority of the hydrophilic domain resides in the endoplasmic reticulum lumen (By similarity). {ECO:0000250}. |
| Tissue Expression | TISSUE SPECIFICITY: Highest expression in placenta. Also found at lower levels in heart, ovary, spleen, small intestine, thymus, prostate and testis. {ECO:0000269|PubMed:18230648}. |
| Signaling_pathway | |
| Research Areas | |
| Function | FUNCTION: May have an important role in maintaining nuclear envelope structure by organizing protein complexes at the inner nuclear membrane. Required for retaining emerin at the inner nuclear membrane (By similarity). Plays a role in the modulation of innate immune signaling through the cGAS-STING pathway by interacting with RNF26 (PubMed:32614325). In addition, functions as a critical signaling component in mediating NF-kappa-B activation by acting downstream of EGFR and upstream of CARD10 (PubMed:27991920). Contributes to passive conductance current in cochlear glia-like supporting cells, mediated by gap junctions and necessary for hearing and speech discrimination (PubMed:34050020). {ECO:0000250|UniProtKB:Q9DBS1, ECO:0000269|PubMed:27991920, ECO:0000269|PubMed:32614325, ECO:0000269|PubMed:34050020}. |
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