Gene: GABRB3

Alternate names for this Gene: DEE43|ECA5|EIEE43

Gene Summary: This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one the subunits of a multi-subunit chloride channel that serves as the receptor for gamma-aminobutyric acid, a major inhibitory neurotransmitter of the mammalian nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two other genes encoding related subunits of the family. This gene may be associated with the pathogenesis of several disorders including Angelman syndrome, Prader-Willi syndrome, nonsyndromic orofacial clefts, epilepsy and autism. Alternatively spliced transcript variants encoding distinct isoforms have been described.

Gene is located in Chromosome: 15

Location in Chromosome : 15q12

Description of this Gene: gamma-aminobutyric acid type A receptor subunit beta3

Type of Gene: protein-coding

rs12440086 in GABRB3 gene and Body mass index PMID 28892062 2017 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population.

rs1555401440 in GABRB3 gene and Dysmorphic features PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

PMID 27476654 2016 De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.

PMID 28053010 2017 Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

PMID 26645412 2016 GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy.

PMID 26950270 2016 Epileptic encephalopathy de novo GABRB mutations impair γ-aminobutyric acid type A receptor function.

PMID 28544625 2017 A mutation in GABRB3 associated with Dravet syndrome.

PMID 27622563 2016 Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population.

PMID 18514161 2008 Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy.

PMID 24999380 2014 Genetic analysis of GABRB3 as a candidate gene of autism spectrum disorders.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 28607477 2017 GABAA receptor subunit gene polymorphisms predict symptom-based and developmental deficits in Chinese Han children and adolescents with autistic spectrum disorders.

rs1057519201 in GABRB3 gene and EPILEPSY, CHILDHOOD ABSENCE, 1 PMID 28053010 2017 Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

PMID 28544625 2017 A mutation in GABRB3 associated with Dravet syndrome.

rs1057519201 in GABRB3 gene and EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5 PMID 28053010 2017 Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

PMID 28544625 2017 A mutation in GABRB3 associated with Dravet syndrome.

rs886037938 in GABRB3 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 PMID 27476654 2016 De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.

PMID 27864847 2017 Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.

PMID 26950270 2016 Epileptic encephalopathy de novo GABRB mutations impair γ-aminobutyric acid type A receptor function.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

rs1555401440 in GABRB3 gene and Movement Disorders PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

PMID 28053010 2017 Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

PMID 26950270 2016 Epileptic encephalopathy de novo GABRB mutations impair γ-aminobutyric acid type A receptor function.

PMID 18514161 2008 Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy.

PMID 24999380 2014 Genetic analysis of GABRB3 as a candidate gene of autism spectrum disorders.

PMID 26645412 2016 GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 28607477 2017 GABAA receptor subunit gene polymorphisms predict symptom-based and developmental deficits in Chinese Han children and adolescents with autistic spectrum disorders.

PMID 27476654 2016 De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.

PMID 28544625 2017 A mutation in GABRB3 associated with Dravet syndrome.

PMID 27622563 2016 Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population.

rs1555401440 in GABRB3 gene and Muscle hypotonia PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 26645412 2016 GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy.

PMID 24999380 2014 Genetic analysis of GABRB3 as a candidate gene of autism spectrum disorders.

PMID 28607477 2017 GABAA receptor subunit gene polymorphisms predict symptom-based and developmental deficits in Chinese Han children and adolescents with autistic spectrum disorders.

PMID 18514161 2008 Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy.

PMID 27476654 2016 De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.

PMID 27622563 2016 Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population.

PMID 28544625 2017 A mutation in GABRB3 associated with Dravet syndrome.

PMID 26950270 2016 Epileptic encephalopathy de novo GABRB mutations impair γ-aminobutyric acid type A receptor function.

PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

PMID 28053010 2017 Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

rs11631129 in GABRB3 gene and Serum albumin measurement PMID 23281178 2013 A genome-wide assessment of variability in human serum metabolism.

rs1432007 in GABRB3 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.