Recombinant Human Acetylcholine receptor subunit gamma (CHRNG), partial

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Code CSB-EP005401HU
MSDS
Size $388
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  • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
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Product Details

Purity
Greater than 85% as determined by SDS-PAGE.
Target Names
CHRNG
Uniprot No.
Research Area
Neuroscience
Species
Homo sapiens (Human)
Source
E.coli
Expression Region
23-240aa
Target Protein Sequence
RNQEERLLADLMQNYDPNLRPAERDSDVVNVSLKLTLTNLISLNEREEALTTNVWIEMQWCDYRLRWDPRDYEGLWVLRVPSTMVWRPDIVLENNVDGVFEVALYCNVLVSPDGCIYWLPPAIFRSACSISVTYFPFDWQNCSLIFQSQTYSTNEIDLQLSQEDGQTIEWIFIDPEAFTENGEWAIQHRPAKMLLDPAAPAQEAGHQKVVFYLLIQRK
Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
Mol. Weight
29.6 kDa
Protein Length
Partial
Tag Info
N-terminal 6xHis-tagged
Form
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.
Buffer
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, pH 8.0.
Reconstitution
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.
Troubleshooting and FAQs
Storage Condition
Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life
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.
Lead Time
3-7 business days
Notes
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.

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Target Background

Function
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.
Gene References into Functions
  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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Involvement in disease
Multiple pterygium syndrome, lethal type (LMPS); Multiple pterygium syndrome, Escobar variant (EVMPS)
Subcellular Location
Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.
Protein Families
Ligand-gated ion channel (TC 1.A.9) family, Acetylcholine receptor (TC 1.A.9.1) subfamily, Gamma/CHRNG sub-subfamily
Database Links

HGNC: 1967

OMIM: 100730

KEGG: hsa:1146

STRING: 9606.ENSP00000374145

UniGene: Hs.248101

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