CHRND Antibody – Rabbit Polyclonal

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. [provided by RefSeq, Feb 2012]

nAChRD: 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 CHRND 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. Defects in CHRND 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 CHRND 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. Delta/CHRND sub-subfamily.

Protein type: Membrane protein, integral; Channel, ligand-gated; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 2q37.1

Cellular Component: nicotinic acetylcholine-gated receptor-channel complex; postsynaptic membrane; plasma membrane; cell junction

Molecular Function: acetylcholine binding; nicotinic acetylcholine-activated cation-selective channel activity

Biological Process: skeletal muscle contraction; synaptic transmission; regulation of membrane potential; muscle contraction; transport; neuromuscular process; skeletal muscle growth; musculoskeletal movement; signal transduction

Disease: Myasthenic Syndrome, Congenital, 3a, Slow-channel; Myasthenic Syndrome, Congenital, 3c, Associated With Acetylcholine Receptor Deficiency; Multiple Pterygium Syndrome, Lethal Type; Myasthenic Syndrome, Congenital, 3b, Fast-channel