Recombinant Human Transmembrane protein 43 (TMEM43)

in vitro E.coli expression system

中文名稱：

人TMEM43重組蛋白
貨號：

CSB-CF023840HU
說明書：

MSDS Datasheet
規格：
來源：

in vitro E.coli expression system
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

基因名：

TMEM43
Uniprot No.：

Q9BTV4
別名：

TMEM43; UNQ2564/PRO6244; Transmembrane protein 43; Protein LUMA
種屬：

Homo sapiens (Human)
蛋白長度：

Full Length of Mature Protein
表達區域：

2-400
氨基酸序列

AANYSSTSTRREHVKVKTSSQPGFLERLSETSGGMFVGLMAFLLSFYLIFTNEGRALKTA TSLAEGLSLVVSPDSIHSVAPENEGRLVHIIGALRTSKLLSDPNYGVHLPAVKLRRHVEM YQWVETEESREYTEDGQVKKETRYSYNTEWRSEIINSKNFDREIGHKNPSAMAVESFMAT APFVQIGRFFLSSGLIDKVDNFKSLSLSKLEDPHVDIIRRGDFFYHSENPKYPEVGDLRV SFSYAGLSGDDPDLGPAHVVTVIARQRGDQLVPFSTKSGDTLLLLHHGDFSAEEVFHREL RSNSMKTWGLRAAGWMAMFMGLNLMTRILYTLVDWFPVFRDLVNIGLKAFAFCVATSLTL LTVAAGWLFYRPLWALLIAGLALVPILVARTRVPAKKLE
Note: The complete sequence may include tag sequence, target protein sequence, linker sequence and extra sequence that is translated with the protein sequence for the purpose(s) of secretion, stability, solubility, etc.
If the exact amino acid sequence of this recombinant protein is critical to your application, please explicitly request the full and complete sequence of this protein before ordering.
蛋白標簽：

N-terminal 10xHis-tagged
產品提供形式：

Liquid or Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
緩沖液：

Lyophilized from Tris/PBS-based buffer, 6% Trehalose, pH 8.0
儲存條件：

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
保質期：

The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
貨期：

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
注意事項：

Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet & COA：

Please contact us to get it.

產品評價

靶點詳情

功能：

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.
基因功能參考文獻：
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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相關疾病：

Arrhythmogenic right ventricular dysplasia, familial, 5 (ARVD5); Emery-Dreifuss muscular dystrophy 7, autosomal dominant (EDMD7)
亞細胞定位：

Endoplasmic reticulum. Nucleus inner membrane; Multi-pass membrane protein.
蛋白家族：

TMEM43 family
組織特異性：

Highest expression in placenta. Also found at lower levels in heart, ovary, spleen, small intestine, thymus, prostate and testis.
數據庫鏈接：

HGNC: 28472

OMIM: 604400

KEGG: hsa:79188

STRING: 9606.ENSP00000303992

UniGene: Hs.517817