NP_067611.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
59,143 Da
NCBI Official Full Name
acetylcholine receptor subunit delta
NCBI Official Synonym Full Names
cholinergic receptor, nicotinic, delta polypeptide
NCBI Protein Information
acetylcholine receptor subunit delta
UniProt Protein Name
Acetylcholine receptor subunit delta
UniProt Synonym Gene Names
NCBI Summary for CHRND
This gene encodes the delta subunit of the muscle-derived nicotinic acetylcholine receptor, a pentameric neurotransmitter receptor and member of the ligand-gated ion channel superfamily. The delta subunit together with the alpha subunit forms the ligand-binding site. [provided by RefSeq, Nov 2012]
UniProt Comments for CHRND
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: Channel, ligand-gated; Membrane protein, integral; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 1 C5|1 44.07 cM
Cellular Component: acetylcholine-gated channel complex; cell junction; integral component of membrane; membrane; plasma membrane; postsynaptic membrane; synapse
Molecular Function: acetylcholine binding; acetylcholine-gated cation channel activity; extracellular ligand-gated ion channel activity; ion channel activity; ligand-gated ion channel activity; protein binding
Biological Process: cation transport; ion transport; musculoskeletal movement; neuromuscular synaptic transmission; regulation of membrane potential; response to nicotine; skeletal muscle contraction; skeletal muscle tissue growth; synaptic transmission, cholinergic; transport
Research Articles on CHRND
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Pathways associated with CHRND elisa kit
Diseases associated with CHRND elisa kit
Organs/Tissues associated with CHRND elisa kit
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