General description
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]
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Immunogen
A synthesized peptide corresponding to a sequence within amino acids 100-135 of human TMEM43 [NP_077310.1].
Physical form
Solution in PBS (pH 7.4) containing 50% glycerol, and 0.02% sodium azide.
Other Notes
Gently mix before use. Optimal concentrations and conditions for each application should be determined by the user.
| biological source | rabbit (Monoclonal) |
| Quality Segment | 100 |
| recombinant | expressed in HEK 293 cells |
| conjugate | unconjugated |
| antibody form | affinity isolated antibody |
| antibody product type | primary antibodies |
| clone | 24GB2325, recombinant monoclonal |
| form | buffered aqueous glycerol solution |
| mol wt | 45 kDa |
| species reactivity | rat, human |
| packaging | vial of 1.5 mL |
| enhanced validation | recombinant expression Learn more about Antibody Enhanced Validation |
| sustainability | Greener Alternative Product |
| concentration | 1.5 mg/ml |
| technique(s) | flow cytometry: 1:2000,western blot: 1:1,000-1:5,000 |
| isotype | IgG |
| Ensembl | human accession no. | ENSG00000170876 |
| NCBI accession no. | NP_077310.1 |
| UniProt accession no. | Q9BTV4 |
| greener alternative category | DfS-Developed |
| shipped in | wet ice |
| storage temp. | −20°C |
| target post-translational modification | unmodified |
| Gene Information | human ... TMEM43(79188) |

