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CHRNB1

The muscle acetylcholine receptor is composed of five subunits: two alpha subunits and one beta, one gamma, and one delta subunit. This gene encodes the beta subunit of the acetylcholine receptor. The acetylcholine receptor changes conformation upon acetylcholine binding leading to the opening of an ion-conducting channel across the plasma membrane. Mutations in this gene are associated with slow-channel congenital myasthenic syndrome. [provided by RefSeq, Jul 2008]
Full Name
Cholinergic Receptor Nicotinic Beta 1 Subunit
Function
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.
Biological Process
Behavioral response to nicotine Source: UniProtKB
Cation transport Source: UniProtKB
Chemical synaptic transmission Source: GO_Central
Ion transmembrane transport Source: GO_Central
Muscle contraction Source: UniProtKB
Muscle fiber development Source: UniProtKB
Nervous system process Source: UniProtKB
Neuromuscular synaptic transmission Source: UniProtKB
Postsynaptic membrane organization Source: UniProtKB
Regulation of membrane potential Source: UniProtKB
Signal transduction Source: UniProtKB
Skeletal muscle contraction Source: Ensembl
Synaptic transmission, cholinergic Source: UniProtKB
Cellular Location
Postsynaptic cell membrane; Cell membrane
Involvement in disease
Myasthenic syndrome, congenital, 2A, slow-channel (CMS2A): A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and 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. CMS2A is a slow-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in prolonged AChR channel opening episodes, prolonged endplate currents, and depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane.
Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency (CMS2C): A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and 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. CMS2C is an autosomal recessive disorder of postsynaptic neuromuscular transmission, due to deficiency of AChR at the endplate that results in low amplitude of the miniature endplate potential and current. CMS2C is clinically characterized by early-onset muscle weakness with variable severity.
Topology
Extracellular: 24-244
Helical: 245-269
Helical: 277-295
Helical: 311-332
Cytoplasmic: 333-469
Helical: 470-488

Anti-CHRNB1 antibodies

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Target: CHRNB1
Host: Rat
Antibody Isotype: IgG2a
Specificity: Human, Mouse, Rat, Fish, Frog, Cattle
Clone: EG686
Application*: IP, WB, IF
Target: CHRNB1
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human, Mouse, Rat
Clone: CBYY-C3045
Application*: E, IF, WB, IP
Target: CHRNB1
Host: Mouse
Antibody Isotype: IgG2b, κ
Specificity: Human
Clone: N0675
Application*: E, IF, WB, IP
Target: CHRNB1
Host: Rat
Antibody Isotype: IgG2a
Specificity: Human, Mouse, Rat, Fish
Clone: N0674
Application*: F, WB, IP
Target: CHRNB1
Host: Rat
Antibody Isotype: IgG1
Specificity: Human, Mouse, Rat, Cattle
Clone: CBWJN-1069
Application*: E, WB, IP
More Infomation
For Research Use Only. Not For Clinical Use.
(P): Predicted
* Abbreviations
IFImmunofluorescence
IHImmunohistochemistry
IPImmunoprecipitation
WBWestern Blot
EELISA
MMicroarray
CIChromatin Immunoprecipitation
FFlow Cytometry
FNFunction Assay
IDImmunodiffusion
RRadioimmunoassay
TCTissue Culture
GSGel Supershift
NNeutralization
BBlocking
AActivation
IInhibition
DDepletion
ESELISpot
DBDot Blot
MCMass Cytometry/CyTOF
CTCytotoxicity
SStimulation
AGAgonist
APApoptosis
IMImmunomicroscopy
BABioassay
CSCostimulation
EMElectron Microscopy
IEImmunoelectrophoresis
PAPeptide Array
ICImmunocytochemistry
PEPeptide ELISA
MDMeDIP
SHIn situ hybridization
IAEnzyme Immunoassay
SEsandwich ELISA
PLProximity Ligation Assay
ECELISA(Cap)
EDELISA(Det)
BIBioimaging
IOImmunoassay
LFLateral Flow Immunoassay
LALuminex Assay
CImmunohistochemistry-Frozen Sections
PImmunohistologyp-Paraffin Sections
ISIntracellular Staining for Flow Cytometry
MSElectrophoretic Mobility Shift Assay
RIRNA Binding Protein Immunoprecipitation (RIP)
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