SKU: WR4760 Categories: ,

U-Blot® TMEM43 Rabbit mAb

Price range: $268.00 through $328.00

SKU: WR4760-50
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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

Size50μL/100μL
TargetTMEM43
ReactivityHuman, Mouse, Rat
ApplicationsWB, IHC
MW(Calculated)44kD
MW(Observed)44kD
Host SpeciesRabbit
IsotypeIgG,Kappa
Conjugate/ModificationUnmodified
Recommended Dilution RatioIHC 1:200-1:1000; WB 1:1000-1:5000; / Note: For IHC, we suggest antigen retrieval with TE buffer pH 9.0 (Cat#WT1004)
FormulationPBS, 50% glycerol, 0.05% Proclin 300, 0.05%BSA
PurificationRecombinant 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
ClonalityMonoclonal
Clone NumberRM1120R
ImmunogenThe specific immunogen used to produce this antibody is proprietary information.
SpecificityEndogenous
Gene NameTMEM43,UNQ2564/PRO6244
Protein NameTransmembrane protein 43 (Protein LUMA)
Other Name
SpeciesHuman
Gene ID79188
UniprotQ9BTV4,
Species.1Mouse
Gene ID.174122
Uniprot.1Q9DBS1
Species.2
Gene ID.2
Uniprot.2
Cellular LocalizationSUBCELLULAR 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 ExpressionTISSUE 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
FunctionFUNCTION: 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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