TMEM43 Antibody, Biotin conjugated

說明書

中文名稱：

TMEM43兔多克隆抗體, Biotin偶聯
貨號：

CSB-PA023840LD01HU
規格：

￥880
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

產品名稱：

Rabbit anti-Homo sapiens (Human) TMEM43 Polyclonal antibody
Uniprot No.：

Q9BTV4
基因名：

TMEM43
別名：

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

Rabbit
反應種屬：

Human
免疫原：

Recombinant Human Transmembrane protein 43 protein (178-312AA)
免疫原種屬：

Homo sapiens (Human)
標記方式：

Biotin
克隆類型：

Polyclonal
抗體亞型：

IgG
純化方式：

>95%, Protein G purified
濃度：

It differs from different batches. Please contact us to confirm it.
保存緩沖液：

Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
產品提供形式：

Liquid
應用范圍：

ELISA
Protocols：

ELISA Protocol
儲存條件：

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
貨期：

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.
用途：

For Research Use Only. Not for use in diagnostic or therapeutic procedures.

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

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