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 a... See more...

Aliases for CHRNB1 Gene

Aliases for CHRNB1 Gene

  • Cholinergic Receptor Nicotinic Beta 1 Subunit 2 3 5
  • Cholinergic Receptor, Nicotinic, Beta Polypeptide 1 (Muscle) 2 3
  • Acetylcholine Receptor, Nicotinic, Beta 1 (Muscle) 2 3
  • Cholinergic Receptor, Nicotinic, Beta 1 (Muscle) 2 3
  • Cholinergic Receptor, Nicotinic Beta 1 2 3
  • Acetylcholine Receptor Subunit Beta 3 4
  • CHRNB 3 4
  • ACHRB 3 4
  • CMS1D 3
  • CMS2A 3
  • CMS2C 3
  • SCCMS 3

External Ids for CHRNB1 Gene

Previous HGNC Symbols for CHRNB1 Gene

  • CHRNB

Previous GeneCards Identifiers for CHRNB1 Gene

  • GC17M007754
  • GC17P008078
  • GC17P007292
  • GC17P007548
  • GC17P007289
  • GC17P007348
  • GC17P007458
  • GC17P007470
  • GC17P007771
  • GC17P007823
  • GC17P007855
  • GC17P007504
  • GC17P007508
  • GC17P007559
  • GC17P007639
  • GC17P007662
  • GC17P007679
  • GC17P007727
  • GC17P007763

Summaries for CHRNB1 Gene

Entrez Gene Summary for CHRNB1 Gene

  • 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]

GeneCards Summary for CHRNB1 Gene

CHRNB1 (Cholinergic Receptor Nicotinic Beta 1 Subunit) is a Protein Coding gene. Diseases associated with CHRNB1 include Myasthenic Syndrome, Congenital, 2A, Slow-Channel and Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency. Among its related pathways are Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics and Peptide ligand-binding receptors. Gene Ontology (GO) annotations related to this gene include extracellular ligand-gated ion channel activity and channel activity. An important paralog of this gene is CHRNG.

UniProtKB/Swiss-Prot Summary for CHRNB1 Gene

  • 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.

Gene Wiki entry for CHRNB1 Gene

Additional gene information for CHRNB1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CHRNB1 Gene

Genomics for CHRNB1 Gene

GeneHancer (GH) Regulatory Elements for CHRNB1 Gene

Promoters and enhancers for CHRNB1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CHRNB1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CHRNB1

Top Transcription factor binding sites by QIAGEN in the CHRNB1 gene promoter:
  • C/EBPalpha
  • CUTL1
  • GATA-1
  • GATA-2
  • GATA-3
  • Pax-5
  • POU3F2
  • PPAR-gamma2
  • SRF

Genomic Locations for CHRNB1 Gene

Genomic Locations for CHRNB1 Gene
chr17:7,445,061-7,457,710
(GRCh38/hg38)
Size:
12,650 bases
Orientation:
Plus strand
chr17:7,348,380-7,361,026
(GRCh37/hg19)
Size:
12,647 bases
Orientation:
Plus strand

Genomic View for CHRNB1 Gene

Genes around CHRNB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHRNB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHRNB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHRNB1 Gene

Proteins for CHRNB1 Gene

  • Protein details for CHRNB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P11230-ACHB_HUMAN
    Recommended name:
    Acetylcholine receptor subunit beta
    Protein Accession:
    P11230
    Secondary Accessions:
    • B7Z5H1
    • Q8IZ46
    • Q96FB8

    Protein attributes for CHRNB1 Gene

    Size:
    501 amino acids
    Molecular mass:
    56698 Da
    Quaternary structure:
    • Pentamer of two alpha chains, and one each of the beta, delta, and gamma (in immature muscle) or epsilon (in mature muscle) chains. The muscle heteropentamer composed of alpha-1, beta-1, delta, epsilon subunits interacts with the alpha-conotoxin ImII (PubMed:15609996).

    Alternative splice isoforms for CHRNB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CHRNB1 Gene

Post-translational modifications for CHRNB1 Gene

  • Glycosylation at Asn164
  • Modification sites at PhosphoSitePlus

Other Protein References for CHRNB1 Gene

No data available for DME Specific Peptides for CHRNB1 Gene

Domains & Families for CHRNB1 Gene

Gene Families for CHRNB1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for CHRNB1 Gene

Blocks:
  • Nicotinic acetylcholine receptor signature
  • Neurotransmitter-gated ion-channel
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CHRNB1 Gene

GenScript: Design optimal peptide antigens:
  • Acetylcholine receptor subunit beta (ACHB_HUMAN)
  • cDNA FLJ52354, highly similar to Acetylcholine receptor protein subunit beta (B7Z5H1_HUMAN)
  • Cholinergic receptor, nicotinic, beta 1 (Muscle) (Q8IZ46_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P11230

UniProtKB/Swiss-Prot:

ACHB_HUMAN :
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Beta-1/CHRNB1 sub-subfamily.
Family:
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Beta-1/CHRNB1 sub-subfamily.
genes like me logo Genes that share domains with CHRNB1: view

Function for CHRNB1 Gene

Molecular function for CHRNB1 Gene

UniProtKB/Swiss-Prot 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.
GENATLAS Biochemistry:
cholinergic receptor,nicotinic,beta 1 polypeptide,muscle

Phenotypes From GWAS Catalog for CHRNB1 Gene

Gene Ontology (GO) - Molecular Function for CHRNB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity IEA --
GO:0005216 ion channel activity IEA --
GO:0005230 contributes_to extracellular ligand-gated ion channel activity IEA,IBA 21873635
GO:0015267 channel activity IMP 8872460
GO:0015276 ligand-gated ion channel activity ISS --
genes like me logo Genes that share ontologies with CHRNB1: view
genes like me logo Genes that share phenotypes with CHRNB1: view

Human Phenotype Ontology for CHRNB1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CHRNB1 Gene

Localization for CHRNB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHRNB1 Gene

Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CHRNB1 gene
Compartment Confidence
plasma membrane 5
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for CHRNB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0005887 integral component of plasma membrane NAS,IBA 8872460
GO:0005892 acetylcholine-gated channel complex IMP 8872460
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CHRNB1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CHRNB1 Gene

Pathways & Interactions for CHRNB1 Gene

genes like me logo Genes that share pathways with CHRNB1: view

Pathways by source for CHRNB1 Gene

1 KEGG pathway for CHRNB1 Gene
2 Qiagen pathways for CHRNB1 Gene
  • AMPK Enzyme Complex Pathway
  • eNOS Signaling

Gene Ontology (GO) - Biological Process for CHRNB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001941 postsynaptic membrane organization IMP 8651643
GO:0003009 skeletal muscle contraction IEA --
GO:0006811 ion transport IEA --
GO:0006812 cation transport IMP 8872460
GO:0006936 muscle contraction IMP 8651643
genes like me logo Genes that share ontologies with CHRNB1: view

No data available for SIGNOR curated interactions for CHRNB1 Gene

Drugs & Compounds for CHRNB1 Gene

(50) Drugs for CHRNB1 Gene - From: DrugBank and ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Galantamine Approved Pharma Target, allosteric modulator Acetylcholinesterase inhibitor 108
(-)-Lobeline hydrochloride Pharma 0
(+)-Anabasine hydrochloride Pharma 0
(+)-Tubocurarine chloride Pharma 0
(±)-Anatoxin A fumarate Pharma 0

(49) ApexBio Compounds for CHRNB1 Gene

Compound Action Cas Number
(-)-Lobeline hydrochloride 134-63-4
(+)-Anabasine hydrochloride 53912-89-3
(+)-Tubocurarine chloride 57-94-3
(±)-Anatoxin A fumarate 1219922-30-1
(±)-Epibatidine dopamine receptor antagonist 148152-66-3
1-Acetyl-4-methylpiperazine hydrochloride 144205-68-5
3-Bromocytisine 207390-14-5
4-Acetyl-1,1-dimethylpiperazinium iodide 75667-84-4
5-Iodo-A-85380, 5-trimethylstannyl N-BOC derivative 213766-21-3
Benzoquinonium dibromide inhibitor of AChR and ganglion 311-09-1
bPiDDB 525596-66-1
Carbamoylcholine chloride 51-83-2
Catestatin 142211-96-9
CCMI 917837-54-8
Chlorisondamine diiodide 96750-66-2
Desformylflustrabromine hydrochloride 951322-11-5
Dihydro-β-erythroidine hydrobromide antagonist of nAChRs 29734-68-7
DMAB-anabaseine dihydrochloride 154149-38-9
EVP-6124 NAChRs agonist 550999-75-2
GTS 21 dihydrochloride nAChRs agonist, novel 156223-05-1
Ivermectin B1a-d2
LX-1031 TPH inhibitor 945976-76-1
LY 2087101 913186-74-0
Mecamylamine hydrochloride 826-39-1
Methyllycaconitine citrate 112825-05-5
MG 624 77257-42-2
NS 1738 501684-93-1
PHA 543613 hydrochloride 478149-53-0
PHA 568487 527680-57-5
PNU 282987 123464-89-1
RJR 2429 dihydrochloride 1021418-53-0
RJR-2403 Nicotinic receptor agonist,highly selective 15585-43-0
RJR-2403 hemioxalate Neuronal nicotinic receptor agonist
RJR-2403 oxalate Nicotinic receptor agonist 220662-95-3
RuBi-Nicotine 1256362-30-7
S 24795 304679-75-2
Sazetidine A dihydrochloride 1197329-42-2
SEN 12333 874450-44-9
SIB 1553A hydrochloride 191611-89-9
SR 16584 1150153-86-8
TC 1698 dihydrochloride 787587-06-8
TC 2559 difumarate 212332-35-9
TMPH hydrochloride 849461-91-2
TQS 353483-92-8
UB 165 fumarate 200432-86-6
α-Bungarotoxin 11032-79-4
α-Conotoxin AuIB 216299-21-7
α-Conotoxin EI 170663-33-9
α-Conotoxin PnIA 705300-84-1
genes like me logo Genes that share compounds with CHRNB1: view

Drug Products

Transcripts for CHRNB1 Gene

mRNA/cDNA for CHRNB1 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CHRNB1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c
SP1: - - -
SP2: - - - -
SP3: -
SP4: - -
SP5:
SP6:
SP7:

Relevant External Links for CHRNB1 Gene

GeneLoc Exon Structure for
CHRNB1

Expression for CHRNB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CHRNB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CHRNB1 Gene

This gene is overexpressed in Muscle - Skeletal (x18.0).

Protein differential expression in normal tissues from HIPED for CHRNB1 Gene

This gene is overexpressed in Testis (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CHRNB1 Gene



Protein tissue co-expression partners for CHRNB1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CHRNB1

SOURCE GeneReport for Unigene cluster for CHRNB1 Gene:

Hs.330386

Evidence on tissue expression from TISSUES for CHRNB1 Gene

  • Muscle(4.7)
  • Eye(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CHRNB1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • chest wall
  • diaphragm
  • esophagus
  • lung
  • rib
  • rib cage
  • sternum
Abdomen:
  • kidney
  • stomach
Pelvis:
  • pelvis
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with CHRNB1: view

No data available for mRNA Expression by UniProt/SwissProt for CHRNB1 Gene

Orthologs for CHRNB1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CHRNB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CHRNB1 31 30
  • 99.53 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CHRNB1 31 30
  • 90.43 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CHRNB1 31 30
  • 88.84 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Chrnb1 17 31 30
  • 86.35 (n)
rat
(Rattus norvegicus)
Mammalia Chrnb1 30
  • 85.53 (n)
oppossum
(Monodelphis domestica)
Mammalia CHRNB1 31
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHRNB1 31
  • 77 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC398048 30
zebrafish
(Danio rerio)
Actinopterygii chrnb1 31 30
  • 61.2 (n)
OneToMany
chrnb1l 31
  • 55 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta nAcR&bgr;-64B 32
  • 39 (a)
nAcRbeta-64B 31
  • 35 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea acr-3 31
  • 32 (a)
ManyToMany
lev-1 31 32
  • 32 (a)
ManyToMany
unc-29 31 32
  • 32 (a)
ManyToMany
acr-14 32
  • 31 (a)
acr-2 31
  • 29 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 41 (a)
OneToMany
Species where no ortholog for CHRNB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for CHRNB1 Gene

ENSEMBL:
Gene Tree for CHRNB1 (if available)
TreeFam:
Gene Tree for CHRNB1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CHRNB1: view image

Paralogs for CHRNB1 Gene

(19) SIMAP similar genes for CHRNB1 Gene using alignment to 7 proteins:

  • ACHB_HUMAN
  • B7Z5H1_HUMAN
  • I3L1T7_HUMAN
  • I3L3Q9_HUMAN
  • I3L4N5_HUMAN
  • I3L535_HUMAN
  • Q8IZ46_HUMAN
genes like me logo Genes that share paralogs with CHRNB1: view

Variants for CHRNB1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CHRNB1 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
639222 Uncertain Significance: Myasthenic syndrome, congenital, 2a, slow-channel 7,454,390(+) T/G MISSENSE_VARIANT
641208 Uncertain Significance: Myasthenic syndrome, congenital, 2a, slow-channel 7,454,385(+) A/G SYNONYMOUS_VARIANT
641587 Uncertain Significance: Myasthenic syndrome, congenital, 2a, slow-channel 7,448,776(+) C/A MISSENSE_VARIANT
642218 Uncertain Significance: Myasthenic syndrome, congenital, 2a, slow-channel 7,446,110(+) C/G MISSENSE_VARIANT
643000 Uncertain Significance: Myasthenic syndrome, congenital, 2a, slow-channel 7,445,398(+) C/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for CHRNB1 Gene

Structural Variations from Database of Genomic Variants (DGV) for CHRNB1 Gene

Variant ID Type Subtype PubMed ID
esv2422288 CNV deletion 17116639
nsv1071367 CNV deletion 25765185
nsv457659 CNV loss 19166990
nsv523672 CNV loss 19592680
nsv574322 CNV loss 21841781
nsv952118 CNV deletion 24416366
nsv978356 CNV duplication 23825009

Variation tolerance for CHRNB1 Gene

Residual Variation Intolerance Score: 49.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.91; 79.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CHRNB1 Gene

Human Gene Mutation Database (HGMD)
CHRNB1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CHRNB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHRNB1 Gene

Disorders for CHRNB1 Gene

MalaCards: The human disease database

(17) MalaCards diseases for CHRNB1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ACHB_HUMAN
  • Myasthenic syndrome, congenital, 2A, slow-channel (CMS2A) [MIM:616313]: 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. {ECO:0000269 PubMed:27375219, ECO:0000269 PubMed:8651643, ECO:0000269 PubMed:8872460}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency (CMS2C) [MIM:616314]: 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. {ECO:0000269 PubMed:10562302}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CHRNB1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CHRNB1: view

No data available for Genatlas for CHRNB1 Gene

Publications for CHRNB1 Gene

  1. Gene-based analysis suggests association of the nicotinic acetylcholine receptor beta1 subunit (CHRNB1) and M1 muscarinic acetylcholine receptor (CHRM1) with vulnerability for nicotine dependence. (PMID: 16874522) Lou XY … Li MD (Human genetics 2006) 3 23 41 54
  2. Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel Gating. (PMID: 27375219) Shen XM … Engel AG (Human mutation 2016) 3 4 54
  3. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C … Hunter DJ (Human genetics 2010) 3 41 54
  4. Multiple cholinergic nicotinic receptor genes affect nicotine dependence risk in African and European Americans. (PMID: 20584212) Saccone NL … Bierut LJ (Genes, brain, and behavior 2010) 3 41 54
  5. Resequencing of nicotinic acetylcholine receptor genes and association of common and rare variants with the Fagerström test for nicotine dependence. (PMID: 20736995) Wessel J … Bergen AW (Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology 2010) 3 41 54

Products for CHRNB1 Gene