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The acetylcholine receptor of muscle has 5 subunits of 4 different types: 2 alpha and 1 each of beta, gamma and delta subunits. Zusätzlich bieten wir Ihnen Cholinergic Receptor, Nicotinic, delta (Muscle) Kits (12) und Cholinergic Receptor, Nicotinic, delta (Muscle) Proteine (7) und viele weitere Produktgruppen zu diesem Protein an.
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Amphibian Monoclonal CHRND Primary Antibody für ICC, IHC (fro) - ABIN266941
Froehner, Douville, Klink, Culp: Monoclonal antibodies to cytoplasmic domains of the acetylcholine receptor. in The Journal of biological chemistry 1983
Show all 3 Pubmed References
Data suggest mutation in invariant Cys-loop of CHRND (D140N) observed in muscle of one patient (11 y/o girl) with congenital myasthenia (w/ severe muscle weakness) alters conformation of ligand/acetylcholine binding site and receptor functionality.
No mutations were found in CHRNG, CHRND and CHRNA1 (zeige CHRNA1 Antikörper) genes of Indian families with Escobar syndrome.
No CHRNA1 (zeige CHRNA1 Antikörper), CHRNB1 (zeige CHRNB1 Antikörper), or CHRND mutations were detected, but a homozygous RAPSN (zeige RAPSN Antikörper) frameshift mutation, c.1177-1178delAA, was identified in a family with three children affected with lethal fetal akinesia sequence.
study reports homozygous nonsense mutations in CHRNA1 and CHRND and shows that they were lethal
Results describe the effects of a point mutation in the AChR delta subunit from a congenital myasthenia patient.
Mutation in the delta-subunit of nAChR (zeige CHRNA4 Antikörper) suppresses the muscle defects caused by lack of dystrophin (zeige DMD Antikörper).
direct involvement of the AChR molecule in restricting receptor-rapsyn (zeige RAPSN Antikörper) clusters to the synapse
sop(-/-) mutants are able to support normal potassium current development during early stages of development but at day 6 the potassium current density is significantly smaller than that in wild-type siblings. sodium current density is unaffected
Bone marrow-derived mesenchymal stem cells up-regulate skeletal muscle acetylcholine receptor delta subunit through NRG/ErbB3 (zeige ERBB3 Antikörper)-mediated mitogen-activated protein kinase (zeige MAPK1 Antikörper) pathway.
Delay in maturation of the nAChR (zeige CHRNA4 Antikörper) clusters during the early postnatal synapse elimination period in protein kinase C (zeige PKC Antikörper) (PKCtheta (zeige PRKCQ Antikörper); deficient mice coincides with a reduction in PKCtheta (zeige PRKCQ Antikörper);-mediated phosphorylation of the nAChR (zeige CHRNA4 Antikörper) delta subunit.
The acetylcholine receptor of muscle has 5 subunits of 4 different types: 2 alpha and 1 each of beta, gamma and delta subunits. After acetylcholine binding, the receptor undergoes an extensive conformation change that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. Defects in this gene are a cause of multiple pterygium syndrome lethal type (MUPSL), congenital myasthenic syndrome slow-channel type (SCCMS), and congenital myasthenic syndrome fast-channel type (FCCMS). Several transcript variants, some protein-coding and some not, have been found for this gene.
acetylcholine receptor subunit delta
, acetylcholine receptor, nicotinic, delta (muscle)
, cholinergic receptor, nicotinic, delta polypeptide
, acetylcholine receptor delta subunit
, sofa potato
, cholinergic receptor, nicotinic, delta
, acetylcholine receptor subunit delta-like
, nicotinic acetylcholine receptor delta polypeptide
, AChR delta subunit
, acetylcholine receptor delta subunit precursor (AA -21 to 500)