Recombinant Human Acetylcholine receptor subunit gamma (CHRNG), partial

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品名簡稱：

Recombinant Human CHRNG protein, partial
貨號：

CSB-EP005401HU
說明書：

MSDS Datasheet
規格：

￥2328
圖片：
(Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

純度：

Greater than 85% as determined by SDS-PAGE.
基因名：

CHRNG
Uniprot No.：

P07510
種屬：

Homo sapiens (Human)
蛋白長度：

Partial
來源：

E.coli
分子量：

29.6 kDa
表達區域：

23-240aa
氨基酸序列

RNQEERLLADLMQNYDPNLRPAERDSDVVNVSLKLTLTNLISLNEREEALTTNVWIEMQWCDYRLRWDPRDYEGLWVLRVPSTMVWRPDIVLENNVDGVFEVALYCNVLVSPDGCIYWLPPAIFRSACSISVTYFPFDWQNCSLIFQSQTYSTNEIDLQLSQEDGQTIEWIFIDPEAFTENGEWAIQHRPAKMLLDPAAPAQEAGHQKVVFYLLIQRK
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 6xHis-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：

If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose.
復溶：

We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
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：

3-7 business days
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：

After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.
基因功能參考文獻：
1. CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome PMID: 27245440
2. Two siblings with Escobar syndrome caused by homozygous mutations of the CHRNG gene were identified. PMID: 25411939
3. Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations. PMID: 25608830
4. We did not identify a clear difference in mutation spectrum of the CHRNG gene between lethal form and non-lethal forms of multiple pterygium syndromes PMID: 22167768
5. CHRNG mutations identified in families with Escobar syndrome show that the trait is a congenital dysmorphology caused by transient inactivation of the neuromuscular endplate. PMID: 16826520
6. Mutations cxause lethal and nonlethal forms of multiple pterygium syndrome. PMID: 16826531
7. constructed and characterized four AChR gamma extracellular domain variants PMID: 18502212
8. This study suggests for the first time in humans, a possible role for genetic variation in the neuromuscular nicotinic acetylcholine receptor, particularly the gamma subunit, in systolic blood pressure regulation PMID: 18625075
9. Detection of PAX3/7-FKHR fusion gene by one-step RT-PCR is useful in the diagnosis of rhabdomyosarcomas (RMS) and that AChR-gamma is overexpressed in Chinese RMS patients. PMID: 18988640
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相關疾?。?/div>
Multiple pterygium syndrome, lethal type (LMPS); Multiple pterygium syndrome, Escobar variant (EVMPS)
亞細胞定位：

Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.
蛋白家族：

Ligand-gated ion channel (TC 1.A.9) family, Acetylcholine receptor (TC 1.A.9.1) subfamily, Gamma/CHRNG sub-subfamily
數據庫鏈接：

HGNC: 1967

OMIM: 100730

KEGG: hsa:1146

STRING: 9606.ENSP00000374145

UniGene: Hs.248101