Typical Testing Data/Standard Curve (for reference only)
Human Acetylcholine ELISA Kit | CHRNA1 elisa kit
Human Acetylcholine Antibody ELISA Kit
Typical Testing Data/Standard Curve (for reference only)
Typical Testing Data/Standard Curve (for reference only)
NCBI and Uniprot Product Information
NCBI Description
The muscle acetylcholine receptor consiststs of 5 subunits of 4 different types: 2 alpha subunits and 1 each of the beta, gamma, and delta subunits. This gene encodes an alpha subunit that plays a role in acetlycholine binding/channel gating. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Nov 2012]
Uniprot Description
nAChRA1: 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. Defects in CHRNA1 are a cause of multiple pterygium syndrome lethal type (MUPSL). Multiple pterygia are found infrequently in children with arthrogryposis and in fetuses with fetal akinesia syndrome. In lethal multiple pterygium syndrome there is intrauterine growth retardation, multiple pterygia, and flexion contractures causing severe arthrogryposis and fetal akinesia. Subcutaneous edema can be severe, causing fetal hydrops with cystic hygroma and lung hypoplasia. Oligohydramnios and facial anomalies are frequent. The alpha subunit is the main focus for antibody binding in 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 CHRNA1 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 CHRNA1 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. Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Alpha- 1/CHRNA1 sub-subfamily. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Receptor, misc.; Membrane protein, integral; Membrane protein, multi-pass; Channel, ligand-gated; Channel, cation
Chromosomal Location of Human Ortholog: 2q31.1
Cellular Component: nicotinic acetylcholine-gated receptor-channel complex; postsynaptic membrane; cell surface; plasma membrane; neuromuscular junction; cell junction
Molecular Function: acetylcholine receptor activity; ion channel activity; acetylcholine binding; nicotinic acetylcholine-activated cation-selective channel activity
Biological Process: muscle maintenance; skeletal muscle contraction; synaptic transmission; regulation of membrane potential; transport; neuromuscular process; generation of action potential; neuromuscular synaptic transmission; skeletal muscle growth; musculoskeletal movement; signal transduction; neuromuscular junction development
Disease: Myasthenic Syndrome, Congenital, Fast-channel; Myasthenic Syndrome, Congenital, Slow-channel; Multiple Pterygium Syndrome, Lethal Type
Research Articles on CHRNA1
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Product Notes
The Human CHRNA1 chrna1 (Catalog #AAA3804703) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA3804703 ELISA Kit recognizes Human CHRNA1. It is sometimes possible for the material contained within the vial of "Acetylcholine, ELISA Kit" 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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