TMEM43 Antibody

中文名稱：

TMEM43兔多克隆抗體
貨號(hào)：

CSB-PA023840LA01HU
規(guī)格：

￥440
圖片：
Western Blot
Positive WB detected in: A549 whole cell lysate, Mouse brain tissue, Mouse skeletal muscle tissue
All lanes: TMEM43 antibody at 4µg/ml
Secondary
Goat polyclonal to rabbit IgG at 1/50000 dilution
Predicted band size: 45 kDa
Observed band size: 45 kDa

Immunohistochemistry of paraffin-embedded human melanoma using CSB-PA023840LA01HU at dilution of 1:100
其他：

產(chǎn)品詳情
產(chǎn)品評(píng)價(jià)
相關(guān)產(chǎn)品
靶點(diǎn)詳情

產(chǎn)品詳情

產(chǎn)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(yīng)種屬：

Human, Mouse
免疫原：

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

Homo sapiens (Human)

標(biāo)記方式：

Non-conjugated

本頁面中的產(chǎn)品，TMEM43 Antibody (CSB-PA023840LA01HU)，的標(biāo)記方式是Non-conjugated。對(duì)于TMEM43 Antibody，我們還提供其他標(biāo)記。見下表：

標(biāo)記方式	貨號(hào)	產(chǎn)品名稱	應(yīng)用
HRP	CSB-PA023840LB01HU	TMEM43 Antibody, HRP conjugated	ELISA
FITC	CSB-PA023840LC01HU	TMEM43 Antibody, FITC conjugated
Biotin	CSB-PA023840LD01HU	TMEM43 Antibody, Biotin conjugated	ELISA

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(chǎn)品提供形式：

Liquid
應(yīng)用范圍：

ELISA, WB, IHC

推薦稀釋比：

Application	Recommended Dilution
WB	1:500-1:5000
IHC	1:20-1:200

Protocols：

ELISA Protocol
Western Blotting (WB) Protocol
Immunohistochemistry (IHC) Protocol
儲(chǔ)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(chǎn)品評(píng)價(jià)

靶點(diǎn)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(xiàn)：
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(guān)疾病：

Arrhythmogenic right ventricular dysplasia, familial, 5 (ARVD5); Emery-Dreifuss muscular dystrophy 7, autosomal dominant (EDMD7)
亞細(xì)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(shù)據(jù)庫鏈接：

HGNC: 28472

OMIM: 604400

KEGG: hsa:79188

STRING: 9606.ENSP00000303992

UniGene: Hs.517817

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