TMEM43 Antibody (Center)
Affinity Purified Rabbit Polyclonal Antibody (Pab)
- SPECIFICATION
- CITATIONS
- PROTOCOLS
- BACKGROUND
Application
| IHC-P, WB, E |
---|---|
Primary Accession | Q9BTV4 |
Other Accession | Q5XIP9, Q9DBS1, NP_077310.1 |
Reactivity | Human |
Predicted | Mouse, Rat |
Host | Rabbit |
Clonality | Polyclonal |
Isotype | Rabbit IgG |
Calculated MW | 44876 Da |
Antigen Region | 195-223 aa |
Gene ID | 79188 |
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Other Names | Transmembrane protein 43, Protein LUMA, TMEM43 |
Target/Specificity | This TMEM43 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 195-223 amino acids from the Central region of human TMEM43. |
Dilution | WB~~1:1000 IHC-P~~1:10~50 |
Format | Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide. This antibody is purified through a protein A column, followed by peptide affinity purification. |
Storage | Maintain refrigerated at 2-8°C for up to 2 weeks. For long term storage store at -20°C in small aliquots to prevent freeze-thaw cycles. |
Precautions | TMEM43 Antibody (Center) is for research use only and not for use in diagnostic or therapeutic procedures. |
Name | TMEM43 |
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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). |
Cellular Location | Endoplasmic reticulum membrane. Nucleus inner membrane; Multi-pass membrane protein. Cell membrane 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). |
Tissue Location | Highest expression in placenta. Also found at lower levels in heart, ovary, spleen, small intestine, thymus, prostate and testis. |
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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.
References
Rose, J.E., et al. Mol. Med. 16 (7-8), 247-253 (2010) :
Barahona-Dussault, C., et al. Clin. Genet. 77(1):37-48(2010)
Hodgkinson, K., et al. Genet. Med. 11(12):859-865(2009)
Merner, N.D., et al. Am. J. Hum. Genet. 82(4):809-821(2008)
Bengtsson, L., et al. J. Cell. Sci. 121 (PT 4), 536-548 (2008) :
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