The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 1 subunit. It is mapped to chromosome 4p12 in a cluster comprised of genes encoding alpha 4, alpha 2 and gamma 1 subunits of the GABA A receptor. Alteration of this gene... See more...

Aliases for GABRB1 Gene

Aliases for GABRB1 Gene

  • Gamma-Aminobutyric Acid Type A Receptor Subunit Beta1 2 3 5
  • Gamma-Aminobutyric Acid (GABA) A Receptor, Beta 1 2 3
  • Gamma-Aminobutyric Acid Receptor Subunit Beta-1 3 4
  • Gamma-Aminobutyric Acid Type A Receptor Beta1 Subunit 3
  • GABA(A) Receptor Subunit Beta-1 4
  • GABA(A) Receptor, Beta 1 2
  • EIEE45 3
  • GABRB1 5

External Ids for GABRB1 Gene

Previous GeneCards Identifiers for GABRB1 Gene

  • GC04P047104
  • GC04P047342
  • GC04P046883
  • GC04P046874
  • GC04P046728
  • GC04P046352

Summaries for GABRB1 Gene

Entrez Gene Summary for GABRB1 Gene

  • The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 1 subunit. It is mapped to chromosome 4p12 in a cluster comprised of genes encoding alpha 4, alpha 2 and gamma 1 subunits of the GABA A receptor. Alteration of this gene is implicated in the pathogenetics of schizophrenia. [provided by RefSeq, Jul 2008]

GeneCards Summary for GABRB1 Gene

GABRB1 (Gamma-Aminobutyric Acid Type A Receptor Subunit Beta1) is a Protein Coding gene. Diseases associated with GABRB1 include Epileptic Encephalopathy, Early Infantile, 45 and Schizophrenia. Among its related pathways are Nicotine addiction and Sweet Taste Signaling. Gene Ontology (GO) annotations related to this gene include chloride channel activity and GABA-A receptor activity. An important paralog of this gene is GABRB2.

UniProtKB/Swiss-Prot Summary for GABRB1 Gene

  • Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand-gated chloride channel.

Tocris Summary for GABRB1 Gene

  • GABAA receptors are members of the Cys-loop family of ligand-gated ion channels and, along with GABAB receptors, are responsible for mediating the inhibitory effects of GABA. They are pentameric proteins, consisting of five subunits belonging to different families.

Gene Wiki entry for GABRB1 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GABRB1 Gene

Genomics for GABRB1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GABRB1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J047031 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas 600.3 +38.3 38341 2.6 GATAD2A CTCF RFX5 RAD21 TRIM22 YY1 SCRT2 NRF1 ZBTB20 ZSCAN29 GABRB1 ENSG00000260918 HSALNG0034230 GABRA4 LOC105374442 COMMD8
GH04J046993 Promoter 1 EPDnew Ensembl 600.7 +0.1 141 1.4 PRDM1 POLR2A EZH2 RAD21 DPF2 BHLHE40 MLLT1 ZBTB33 GABRA4 GABRB1 COX7B2 HSALNG0034230 COMMD8
GH04J047011 Enhancer 0.7 ENCODE 0.4 +17.5 17519 0.2 BACH1 IRF2 IKZF2 SP1 TRIM22 DPF2 RELB GATAD2B ARNT ELF1 COX7B2 HSALNG0034230 GABRA4 GABRB1 COMMD8
GH04J047071 Enhancer 0.7 Ensembl ENCODE 0.2 +78.4 78404 1.7 TCF7L2 CEBPB JUN FOS EP300 STAT3 MAFK JUND ATF7 LOC105374442 HSALNG0034230 GABRA4 GABRB1 COMMD8
GH04J046947 Enhancer 0.5 Ensembl 0.3 -46.4 -46359 1.6 POLR2A CEBPB NFE2 JUN NFE2L2 COX7B2 piR-48325-116 GABRA4 GABRB1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GABRB1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GABRB1

Top Transcription factor binding sites by QIAGEN in the GABRB1 gene promoter:
  • HFH-1
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1a
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4

Genomic Locations for GABRB1 Gene

Genomic Locations for GABRB1 Gene
chr4:46,993,560-47,438,409
(GRCh38/hg38)
Size:
444,850 bases
Orientation:
Plus strand
chr4:46,995,740-47,428,462
(GRCh37/hg19)
Size:
432,723 bases
Orientation:
Plus strand

Genomic View for GABRB1 Gene

Genes around GABRB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GABRB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GABRB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GABRB1 Gene

Proteins for GABRB1 Gene

  • Protein details for GABRB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P18505-GBRB1_HUMAN
    Recommended name:
    Gamma-aminobutyric acid receptor subunit beta-1
    Protein Accession:
    P18505
    Secondary Accessions:
    • B2R6U7
    • D6REL3
    • Q16166
    • Q8TBK3

    Protein attributes for GABRB1 Gene

    Size:
    474 amino acids
    Molecular mass:
    54235 Da
    Quaternary structure:
    • Binds UBQLN1 (By similarity). Heteropentamer, formed by a combination of alpha, beta, gamma, delta and rho chains. Interacts with KCTD8, KCTD12 and KCTD16; this interaction determines the pharmacology and kinetics of the receptor response, the KCTD proteins markedly accelerating the GABA-B response, although to different extents (By similarity).

    Alternative splice isoforms for GABRB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GABRB1 Gene

Post-translational modifications for GABRB1 Gene

  • Glycosylation at Asn105 and Asn174
  • Modification sites at PhosphoSitePlus

Other Protein References for GABRB1 Gene

No data available for DME Specific Peptides for GABRB1 Gene

Domains & Families for GABRB1 Gene

Gene Families for GABRB1 Gene

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

Protein Domains for GABRB1 Gene

InterPro:
Blocks:
  • Neurotransmitter-gated ion-channel
  • Gamma-aminobutyric acid A (GABAA) receptor signature
  • Gamma-aminobutyric-acid A receptor beta subunit signature
ProtoNet:

Suggested Antigen Peptide Sequences for GABRB1 Gene

GenScript: Design optimal peptide antigens:
  • GABA(A) receptor subunit beta-1 (GBRB1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P18505

UniProtKB/Swiss-Prot:

GBRB1_HUMAN :
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRB1 sub-subfamily.
Family:
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRB1 sub-subfamily.
genes like me logo Genes that share domains with GABRB1: view

Function for GABRB1 Gene

Molecular function for GABRB1 Gene

UniProtKB/Swiss-Prot Function:
Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand-gated chloride channel.
GENATLAS Biochemistry:
gamma-aminobutyric acid (GABA) A receptor,ionotropic,beta subunit 1,component of a pentameric receptor mediating inhibitory neurotransmission,(no evident association of GABRB1 polymorphism (H396Q) with schizophrenia)

Phenotypes From GWAS Catalog for GABRB1 Gene

Gene Ontology (GO) - Molecular Function for GABRB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity IEA --
GO:0004890 GABA-A receptor activity ISS --
GO:0005216 ion channel activity IEA --
GO:0005230 extracellular ligand-gated ion channel activity IEA --
GO:0005253 anion channel activity IEA --
genes like me logo Genes that share ontologies with GABRB1: view
genes like me logo Genes that share phenotypes with GABRB1: view

Human Phenotype Ontology for GABRB1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for GABRB1 Gene

miRTarBase miRNAs that target GABRB1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GABRB1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for GABRB1 Gene

Localization for GABRB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GABRB1 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 GABRB1 gene
Compartment Confidence
plasma membrane 5
nucleus 3
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1
lysosome 0

Gene Ontology (GO) - Cellular Components for GABRB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005635 nuclear envelope IEA --
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS,ISS --
genes like me logo Genes that share ontologies with GABRB1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GABRB1 Gene

Pathways & Interactions for GABRB1 Gene

genes like me logo Genes that share pathways with GABRB1: view

Pathways by source for GABRB1 Gene

2 GeneGo (Thomson Reuters) pathways for GABRB1 Gene
  • Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling
  • Signal transduction_PKA signaling
1 R&D Systems pathway for GABRB1 Gene
1 Tocris pathway for GABRB1 Gene
2 Qiagen pathways for GABRB1 Gene
  • Akt Signaling
  • Sperm Motility

Gene Ontology (GO) - Biological Process for GABRB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport ISS --
GO:0006821 chloride transport IEA --
GO:0007165 signal transduction TAS,IBA 21873635
GO:0007214 gamma-aminobutyric acid signaling pathway IMP 26950270
GO:0007268 chemical synaptic transmission IBA 21873635
genes like me logo Genes that share ontologies with GABRB1: view

No data available for SIGNOR curated interactions for GABRB1 Gene

Drugs & Compounds for GABRB1 Gene

(89) Drugs for GABRB1 Gene - From: DrugBank, DGIdb, IUPHAR, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bromazepam Approved, Illicit, Investigational Pharma Target, positive allosteric modulator, binder 3
Chlordiazepoxide Approved, Illicit, Investigational Pharma Target, positive allosteric modulator, agonist 5
Clobazam Approved, Illicit Pharma Target, positive allosteric modulator, antagonist 25
Clonazepam Approved, Illicit Pharma Target, positive allosteric modulator, agonist 41
Clorazepate Approved, Illicit Pharma Target, positive allosteric modulator, agonist 0

(2) Additional Compounds for GABRB1 Gene - From: HMDB, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
gaba
56-12-2
Alpha-hydroxyalprazolam
37115-43-8

(4) Tocris Compounds for GABRB1 Gene

Compound Action Cas Number
Acamprosate calcium GABA agonist and glutamatergic modulator 77337-73-6
GABA Endogenous agonist 56-12-2
TACA GABAA agonist. Also GABA-T substrate and GABA uptake inhibitor 38090-53-8
ZAPA sulfate Agonist at 'low affinity' GABAA receptor. More potent than GABA/muscimol 371962-01-5
genes like me logo Genes that share compounds with GABRB1: view

Transcripts for GABRB1 Gene

mRNA/cDNA for GABRB1 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GABRB1

Alternative Splicing Database (ASD) splice patterns (SP) for GABRB1 Gene

No ASD Table

Relevant External Links for GABRB1 Gene

GeneLoc Exon Structure for
GABRB1

Expression for GABRB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GABRB1 Gene

mRNA differential expression in normal tissues according to GTEx for GABRB1 Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x7.4), Brain - Caudate (basal ganglia) (x5.5), Brain - Amygdala (x5.3), and Brain - Frontal Cortex (BA9) (x4.1).

Protein differential expression in normal tissues from HIPED for GABRB1 Gene

This gene is overexpressed in Frontal cortex (56.0) and Brain (13.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GABRB1 Gene



Protein tissue co-expression partners for GABRB1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GABRB1

SOURCE GeneReport for Unigene cluster for GABRB1 Gene:

Hs.27283

Evidence on tissue expression from TISSUES for GABRB1 Gene

  • Nervous system(4.8)
genes like me logo Genes that share expression patterns with GABRB1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GABRB1 Gene

Orthologs for GABRB1 Gene

This gene was present in the common ancestor of animals.

Orthologs for GABRB1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GABRB1 30 31
  • 99.86 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GABRB1 30 31
  • 92.69 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GABRB1 31
  • 92 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Gabrb1 30 17 31
  • 91.7 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gabrb1 30
  • 91.28 (n)
Dog
(Canis familiaris)
Mammalia GABRB1 30 31
  • 90.23 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 71 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves GABRQ 30
  • 68.29 (n)
GABRB1 31
  • 66 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GABRB1 31
  • 89 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gabrb1 30
  • 76.23 (n)
Zebrafish
(Danio rerio)
Actinopterygii GABRB1 31
  • 78 (a)
OneToOne
gabrb1 30
  • 73.9 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Rdl 32
  • 46 (a)
Lcch3 31 32
  • 45 (a)
OneToMany
ort 32
  • 34 (a)
CG11340 32
  • 27 (a)
CG7589 32
  • 25 (a)
CG6927 32
  • 24 (a)
Worm
(Caenorhabditis elegans)
Secernentea glc-1 32
  • 41 (a)
glc-4 32
  • 39 (a)
glc-2 32
  • 38 (a)
gab-1 31 32
  • 37 (a)
OneToMany
gbr-5 32
  • 37 (a)
W10G11.16 32
  • 35 (a)
Y46G5A.26 32
  • 35 (a)
F11H8.2 32
  • 34 (a)
T24D8.1 32
  • 34 (a)
C39B10.2 32
  • 33 (a)
gbr-4 32
  • 32 (a)
gbr-6 32
  • 32 (a)
T15B7.16 32
  • 31 (a)
C53D6.3 32
  • 29 (a)
K10D6.1 32
  • 29 (a)
T27E9.9 32
  • 29 (a)
Y71D11A.5 32
  • 28 (a)
F09G2.5 32
  • 27 (a)
F58G6.4 32
  • 27 (a)
Y73F8A.2 32
  • 27 (a)
F55D10.5 32
  • 25 (a)
T20B12.9 32
  • 23 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 53 (a)
OneToMany
Species where no ortholog for GABRB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • 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 Vase (Ciona intestinalis)
  • 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)
  • Wheat (Triticum aestivum)

Evolution for GABRB1 Gene

ENSEMBL:
Gene Tree for GABRB1 (if available)
TreeFam:
Gene Tree for GABRB1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GABRB1: view image

Paralogs for GABRB1 Gene

(24) SIMAP similar genes for GABRB1 Gene using alignment to 4 proteins:

  • GBRB1_HUMAN
  • D6REL3_HUMAN
  • D6REM0_HUMAN
  • F5GXV5_HUMAN
genes like me logo Genes that share paralogs with GABRB1: view

Variants for GABRB1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GABRB1 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
638346 Uncertain Significance: Epileptic encephalopathy, early infantile, 45 47,161,315(+) C/T MISSENSE_VARIANT
708666 Likely Benign: not provided 47,403,650(+) A/T SYNONYMOUS_VARIANT
713906 Benign: not provided 47,406,879(+) G/A MISSENSE_VARIANT
729136 Benign: not provided 47,403,563(+) G/A SYNONYMOUS_VARIANT
729137 Likely Benign: not provided 47,403,717(+) A/G INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for GABRB1 Gene

Structural Variations from Database of Genomic Variants (DGV) for GABRB1 Gene

Variant ID Type Subtype PubMed ID
esv25226 CNV loss 19812545
esv2576648 CNV deletion 19546169
esv2642095 CNV deletion 19546169
esv2667961 CNV deletion 23128226
esv3563825 CNV deletion 23714750
esv3600442 CNV loss 21293372
esv3600443 CNV loss 21293372
esv3600446 CNV loss 21293372
esv3600448 CNV loss 21293372
esv6753 CNV gain 19470904
nsv1074709 CNV deletion 25765185
nsv1123782 CNV deletion 24896259
nsv1141987 OTHER inversion 24896259
nsv4325 CNV deletion 18451855
nsv4326 CNV insertion 18451855
nsv829922 CNV gain 17160897
nsv998919 CNV gain 25217958

Variation tolerance for GABRB1 Gene

Residual Variation Intolerance Score: 18.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.99; 20.29% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GABRB1 Gene

Human Gene Mutation Database (HGMD)
GABRB1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GABRB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GABRB1 Gene

Disorders for GABRB1 Gene

MalaCards: The human disease database

(12) MalaCards diseases for GABRB1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
epileptic encephalopathy, early infantile, 45
  • eiee45
schizophrenia
  • sczd
schizoaffective disorder
  • schizo-affective psychosis
alcohol dependence
  • alcoholism
ring dermoid of cornea
  • rdc
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

GBRB1_HUMAN
  • Epileptic encephalopathy, early infantile, 45 (EIEE45) [MIM:617153]: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. {ECO:0000269 PubMed:23934111, ECO:0000269 PubMed:26950270, ECO:0000269 PubMed:27273810}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GABRB1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with GABRB1: view

No data available for Genatlas for GABRB1 Gene

Publications for GABRB1 Gene

  1. Epileptic encephalopathy de novo GABRB mutations impair γ-aminobutyric acid type A receptor function. (PMID: 26950270) Janve VS … Macdonald RL (Annals of neurology 2016) 3 4
  2. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. (PMID: 24722188) Corominas R … Iakoucheva LM (Nature communications 2014) 3 4
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  4. Association study of 182 candidate genes in anorexia nervosa. (PMID: 20468064) Pinheiro AP … Woodside DB (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010) 3 41
  5. Strong genetic evidence for a selective influence of GABAA receptors on a component of the bipolar disorder phenotype. (PMID: 19078961) Craddock N … O'Donovan MC (Molecular psychiatry 2010) 3 41

Products for GABRB1 Gene

  • Signalway Proteins for GABRB1

Sources for GABRB1 Gene