Acetylcholine receptor subunit epsilon (CHRNE) Recombinant Protein | CHRNE recombinant protein
Recombinant Human Acetylcholine receptor subunit epsilon (CHRNE)
Repeated freezing and thawing is not recommended. Store working aliquots at 4 degree C for up to one week.
NCBI and Uniprot Product Information
NCBI Description
Acetylcholine receptors at mature mammalian neuromuscular junctions are pentameric protein complexes composed of four subunits in the ratio of two alpha subunits to one beta, one epsilon, and one delta subunit. The acetylcholine receptor changes subunit composition shortly after birth when the epsilon subunit replaces the gamma subunit seen in embryonic receptors. Mutations in the epsilon subunit are associated with congenital myasthenic syndrome. [provided by RefSeq, Sep 2009]
Uniprot Description
nAChRE: 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. The muscle AChR is the major target antigen in the autoimmune disease myasthenia gravis. Myasthenia gravis is characterized by sporadic muscular fatigability and weakness, occurring chiefly in muscles innervated by cranial nerves, and characteristically improved by cholinesterase-inhibiting drugs. Defects in CHRNE are a cause of congenital myasthenic syndrome slow-channel type (SCCMS). SCCMS is the most common congenital myasthenic syndrome. Congenital myasthenic syndromes are characterized by muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. SCCMS is caused by kinetic abnormalities of the AChR, resulting in prolonged endplate currents and prolonged AChR channel opening episodes. Defects in CHRNE are a cause of congenital myasthenic syndrome fast-channel type (FCCMS). FCCMS is a congenital myasthenic syndrome characterized by kinetic abnormalities of the AChR. In most cases, FCCMS is due to mutations that decrease activity of the AChR by slowing the rate of opening of the receptor channel, speeding the rate of closure of the channel, or decreasing the number of openings of the channel during ACh occupancy. The result is failure to achieve threshold depolarization of the endplate and consequent failure to fire an action potential. Defects in CHRNE are a cause of congenital myasthenic syndrome with acetylcholine receptor deficiency (CMS-ACHRD). CMS-ACHRD is a postsynaptic congenital myasthenic syndrome. Mutations underlying AChR deficiency cause a 'loss of function' and show recessive inheritance. Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Epsilon/CHRNE sub-subfamily.
Protein type: Channel, ligand-gated; Membrane protein, multi-pass; Channel, cation; Membrane protein, integral
Chromosomal Location of Human Ortholog: 17p13.2
Cellular Component: cell junction; integral to plasma membrane; nicotinic acetylcholine-gated receptor-channel complex; plasma membrane; postsynaptic membrane
Molecular Function: acetylcholine binding; acetylcholine receptor activity; cation transmembrane transporter activity; ligand-gated ion channel activity; nicotinic acetylcholine-activated cation-selective channel activity
Biological Process: muscle contraction; neuromuscular synaptic transmission; regulation of membrane potential; response to nicotine; signal transduction; skeletal muscle contraction; synaptic transmission, cholinergic; transport
Disease: Myasthenic Syndrome, Congenital, 4a, Slow-channel; Myasthenic Syndrome, Congenital, 4b, Fast-channel; Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency
Research Articles on CHRNE
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Product Notes
The CHRNE chrne (Catalog #AAA7011465) is a Recombinant Protein produced from Cell Free Expression and is intended for research purposes only. The product is available for immediate purchase. The immunogen sequence is 21-493aa; Full length protein. This is a recombinant transmembrane protein expressed in a cell-free expression system. Researchers should empirically determine the suitability of the CHRNE chrne for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. The amino acid sequence is listed below: KNEELRLYHH LFNNYDPGSR PVREPEDTVT ISLKVTLTNL ISLNEKEETL TTSVWIGIDW QDYRLNYSKD DFGGIETLRV PSELVWLPEI VLENNIDGQF GVAYDANVLV YEGGSVTWLP PAIYRSVCAV EVTYFPFDWQ NCSLIFRSQT YNAEEVEFTF AVDNDGKTIN KIDIDTEAYT ENGEWAIDFC PGVIRRHHGG ATDGPGETDV IYSLIIRRKP LFYVINIIVP CVLISGLVLL AYFLPAQAGG QKCTVSINVL LAQTVFLFLI AQKIPETSLS VPLLGRFLIF VMVVATLIVM NCVIVLNVSQ RTPTTHAMSP RLRHVLLELL PRLLGSPPPP EAPRAASPPR RASSVGLLLR AEELILKKPR SELVFEGQRH RQGTWTAAFC QSLGAAAPEV RCCVDAVNFV AESTRDQEAT GEEVSDWVRM GNALDNICFW AALVLFSVGS SLIFLGAYFN RVPDLPYAPC IQP. It is sometimes possible for the material contained within the vial of "Acetylcholine receptor subunit epsilon (CHRNE), Recombinant Protein" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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