TMEM43 Antibody

Code CSB-PA023840ESR1HU
Size US$166
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  • Immunohistochemistry of paraffin-embedded human bladder cancer using CSB-PA023840ESR1HU at dilution of 1:100

  • Immunohistochemistry of paraffin-embedded human placenta tissue using CSB-PA023840ESR1HU at dilution of 1:100

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Product Details

Full Product Name
Rabbit anti-Homo sapiens (Human) TMEM43 Polyclonal antibody
Uniprot No.
Target Names
TMEM43
Alternative Names
TMEM43; UNQ2564/PRO6244; Transmembrane protein 43; Protein LUMA
Raised in
Rabbit
Species Reactivity
Human
Immunogen
Recombinant Human Transmembrane protein 43 protein (80-310AA)
Immunogen Species
Homo sapiens (Human)
Conjugate
Non-conjugated
Clonality
Polyclonal
Isotype
IgG
Purification Method
Antigen Affinity Purified
Concentration
It differs from different batches. Please contact us to confirm it.
Buffer
PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Form
Liquid
Tested Applications
ELISA, IHC
Recommended Dilution
Application Recommended Dilution
IHC 1:20-1:200
Troubleshooting and FAQs
Storage
Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time
Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

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Target Background

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.
Gene References into Functions
  1. TMEM43 deficiency significantly affects colony formation, survival of anoikis-induced cell death, migration and invasion of cancer cells in vitro, as well as tumor progression in vivo. PMID: 27991920
  2. A very rare mutation in TMEM 43 for the development of Arrhythmogenic cardiomyopathy has a definite connection with desmosomal proteins (plakoglobin) and justifies in a highly arrhythmogenic form of the disease. PMID: 27389450
  3. Implantable cardioverter defibrillator therapy is indicated for primary prevention in postpubertal males and in females >/= 30 years with the p.S358L TMEM43 mutation. PMID: 26966288
  4. Results suggest a link between missense mutation in this protein and the risk of familial ARVC PMID: 24598986
  5. These observations suggest that expression of the p.S358L mutant of TMEM43 found in ARVC type 5 may affect localization of proteins involved in conduction, alter gap junction function and reduce conduction velocity in cardiac tissue. PMID: 25343256
  6. ARVC due to p.S358L in TMEM43 is a variant form of ARVC with extreme variability of expression. It is sex influenced: males are more frequently hospitalized and have heart failure and SCD at a younger age than females. PMID: 22725725
  7. TMEM43 mutations occur outside of the founder population of the island of Newfoundland where it was originally described. PMID: 23812740
  8. full gene sequencing of TMEM43 in 143 ARVC probands (families) from the UK revealed three potential pathogenic variants (p.R312W, p.R28W, p.E142K). The p.R312W missense variant is a recurrent mutation due to a founder effect and is likely pathogenic. PMID: 23161701
  9. Ser358Leu mutant TMEM43 exhibits normal cellular localization and does not disrupt integrity and localization of other nuclear envelope and desmosomal proteins. PMID: 22458570
  10. The TMEM43 gene underlies a distinctive form of arrhythmogenic right ventricular cardiomyopathy (ARVC) which may share a final common pathway with desmosome-associated ARVC. PMID: 21214875
  11. The results of study suggested that mutant LUMAs may be associated with EDMD-related myopathy. PMID: 21391237
  12. Studies indicate that in 2007, the Newfoundland local research team discovered the causative mutation in a novel gene TMEM43 within the disease-associated founder haplotype. PMID: 20010364
  13. In families with arrhythmogenic right ventricular cardiomyopathy, there was found a missense mutation in a highly conserved transmembrane domain of TMEM43 and was predicted to be deleterious. PMID: 18313022
  14. LUMA (TMEM43) is a highly conserved protein located to inner nuclear membrane (INM) and interacting with A- and B-type lamins. It is particularly important for anchoring of emerin at the INM and may thus contribute to the pathogenesis of laminopathies. PMID: 18230648

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Involvement in disease
Arrhythmogenic right ventricular dysplasia, familial, 5 (ARVD5); Emery-Dreifuss muscular dystrophy 7, autosomal dominant (EDMD7)
Subcellular Location
Endoplasmic reticulum. Nucleus inner membrane; Multi-pass membrane protein.
Protein Families
TMEM43 family
Tissue Specificity
Highest expression in placenta. Also found at lower levels in heart, ovary, spleen, small intestine, thymus, prostate and testis.
Database Links

HGNC: 28472

OMIM: 604400

KEGG: hsa:79188

STRING: 9606.ENSP00000303992

UniGene: Hs.517817

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