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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. Additionally we are shipping Cholinergic Receptor, Nicotinic, delta (Muscle) Antibodies (47) and Cholinergic Receptor, Nicotinic, delta (Muscle) Proteins (7) and many more products for this protein.
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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 (show CHRNA1 ELISA Kits) genes of Indian families with Escobar syndrome.
No CHRNA1 (show CHRNA1 ELISA Kits), CHRNB1 (show CHRNB1 ELISA Kits), or CHRND mutations were detected, but a homozygous RAPSN (show RAPSN ELISA Kits) 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 (show CHRNA4 ELISA Kits) suppresses the muscle defects caused by lack of dystrophin (show DMD ELISA Kits).
direct involvement of the AChR molecule in restricting receptor-rapsyn (show RAPSN ELISA Kits) 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 (show ERBB3 ELISA Kits)-mediated mitogen-activated protein kinase (show MAPK1 ELISA Kits) pathway.
Delay in maturation of the nAChR (show CHRNA4 ELISA Kits) clusters during the early postnatal synapse elimination period in protein kinase C (show PKC ELISA Kits) (PKCtheta (show PRKCQ ELISA Kits); deficient mice coincides with a reduction in PKCtheta (show PRKCQ ELISA Kits);-mediated phosphorylation of the nAChR (show CHRNA4 ELISA Kits) 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)