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Gamma-aminobutyric acid (GABA) A receptor, beta 3
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| Identifiers | ||
| Symbol(s) | GABRB3; MGC9051 | |
| External IDs | OMIM: 137192 MGI: 95621 HomoloGene: 633 | |
| RNA expression pattern | ||
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| Orthologs | ||
| Human | Mouse | |
| Entrez | 2562 | 14402 |
| Ensembl | ENSG00000166206 | ENSMUSG00000033676 |
| Uniprot | P28472 | P63080 |
| Refseq | NM_000814 (mRNA) NP_000805 (protein) |
NM_001038701 (mRNA) NP_001033790 (protein) |
| Location | Chr 15: 24.34 - 24.77 Mb | Chr 7: 57.46 - 57.7 Mb |
| Pubmed search | [1] | [2] |
Gamma-aminobutyric acid (GABA) A receptor, beta 3, also known as GABRB3, is a human gene. The Human Genome Organisation (HUGO is an organization involved in the Human Genome Project, a project about mapping the human genome The Mouse Genome Informatics (MGI website is run by The Jackson Laboratory. HomoloGene, a tool of the National Center for Biotechnology Information (NCBI is a system for automated detection of homologs (similarity attributable to descent The Entrez Global Query Cross-Database Search System is a powerful Federated search engine or Web portal that allows users to search many discrete Health sciences Ensembl is a joint scientific project between the European Bioinformatics Institute and the Wellcome Trust Sanger Institute, which was launched in 1999 in response to the imminent UniProt is the uni versal prot ein resource a central repository of Protein data created by combining Swiss-Prot, TrEMBL PubMed is a free search engine for accessing the MEDLINE database of citations and abstracts of biomedical research articles History See also History of genetics The existence of genes was first suggested by Gregor Mendel (1822-1884 who in the 1860s studied inheritance
This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one of at least 13 distinct subunits of a multisubunit chloride channel that serves as the receptor for gamma-aminobutyric acid, the major inhibitory transmitter of the nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two genes encoding related subunits of the family. Mutations in this gene may be associated with the pathogenesis of Angelman syndrome, Prader-Willi syndrome, and autism. Alternatively spliced transcript variants encoding isoforms with distinct signal peptides have been described. [1]
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See also
References
- ^ Entrez Gene: GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3. The GABAA receptor is one of two ligand-gated Ion channels responsible for mediating the effects of Gamma-aminobutyric acid (GABA the major
Further reading
- Saitoh S, Kubota T, Ohta T, et al. (1992). "Familial Angelman syndrome caused by imprinted submicroscopic deletion encompassing GABAA receptor beta 3-subunit gene. ". Lancet 339 (8789): 366–7. PMID 1346439.
- Wagstaff J, Chaillet JR, Lalande M (1992). "The GABAA receptor beta 3 subunit gene: characterization of a human cDNA from chromosome 15q11q13 and mapping to a region of conserved synteny on mouse chromosome 7. ". Genomics 11 (4): 1071–8. PMID 1664410.
- Wagstaff J, Knoll JH, Fleming J, et al. (1991). "Localization of the gene encoding the GABAA receptor beta 3 subunit to the Angelman/Prader-Willi region of human chromosome 15. ". Am. J. Hum. Genet. 49 (2): 330–7. PMID 1714232.
- Russek SJ, Farb DH (1995). "Mapping of the beta 2 subunit gene (GABRB2) to microdissected human chromosome 5q34-q35 defines a gene cluster for the most abundant GABAA receptor isoform. ". Genomics 23 (3): 528–33. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 7851879.
- Knoll JH, Cheng SD, Lalande M (1994). "Allele specificity of DNA replication timing in the Angelman/Prader-Willi syndrome imprinted chromosomal region. ". Nat. Genet. 6 (1): 41–6. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 8136833.
- Tögel M, Mossier B, Fuchs K, Sieghart W (1994). "gamma-Aminobutyric acidA receptors displaying association of gamma 3-subunits with beta 2/3 and different alpha-subunits exhibit unique pharmacological properties. ". J. Biol. Chem. 269 (17): 12993–8. PMID 8175718.
- Kirkness EF, Fraser CM (1993). "A strong promoter element is located between alternative exons of a gene encoding the human gamma-aminobutyric acid-type A receptor beta 3 subunit (GABRB3). ". J. Biol. Chem. 268 (6): 4420–8. PMID 8382702.
- Sinnett D, Wagstaff J, Glatt K, et al. (1993). "High-resolution mapping of the gamma-aminobutyric acid receptor subunit beta 3 and alpha 5 gene cluster on chromosome 15q11-q13, and localization of breakpoints in two Angelman syndrome patients. ". Am. J. Hum. Genet. 52 (6): 1216–29. PMID 8389098.
- Glatt K, Glatt H, Lalande M (1997). "Structure and organization of GABRB3 and GABRA5. ". Genomics 41 (1): 63–9. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 9126483.
- Meguro M, Mitsuya K, Sui H, et al. (1997). "Evidence for uniparental, paternal expression of the human GABAA receptor subunit genes, using microcell-mediated chromosome transfer. ". Hum. Mol. Genet. 6 (12): 2127–33. PMID 9328477.
- Russek SJ (1999). "Evolution of GABA(A) receptor diversity in the human genome. ". Gene 227 (2): 213–22. PMID 10023064.
- Buckley ST, Eckert AL, Dodd PR (2006). "Expression and distribution of GABAA receptor subtypes in human alcoholic cerebral cortex. ". Ann. N. Y. Acad. Sci. 914: 58–64. PMID 11085308.
- Scapoli L, Martinelli M, Pezzetti F, et al. (2002). "Linkage disequilibrium between GABRB3 gene and nonsyndromic familial cleft lip with or without cleft palate. ". Hum. Genet. 110 (1): 15–20. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 11810291.
- Buxbaum JD, Silverman JM, Smith CJ, et al. (2002). "Association between a GABRB3 polymorphism and autism. ". Mol. Psychiatry 7 (3): 311–6. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 11920158.
- Buhr A, Bianchi MT, Baur R, et al. (2002). "Functional characterization of the new human GABA(A) receptor mutation beta3(R192H). ". Hum. Genet. 111 (2): 154–60. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 12189488.
- Trudell J (2002). "Unique assignment of inter-subunit association in GABA(A) alpha 1 beta 3 gamma 2 receptors determined by molecular modeling. ". Biochim. Biophys. Acta 1565 (1): 91–6. PMID 12225856.
- Sarto I, Wabnegger L, Dögl E, Sieghart W (2002). "Homologous sites of GABA(A) receptor alpha(1), beta(3) and gamma(2) subunits are important for assembly. ". Neuropharmacology 43 (4): 482–91. PMID 12367595.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. ". Proc. Natl. Acad. Sci. U. S. A. 99 (26): 16899–903. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 12477932.
- Słopień A, Rajewski A, Budny B, Czerski P (2003). "[Evaluation of q11-q13 locus of chromosome 15 aberrations and polymorphisms in the B3 subunit of the GABA-A receptor gene (GABRB3) in autistic patients]". Psychiatr. Pol. 36 (5): 779–91. PMID 12491987.
- Brandon NJ, Jovanovic JN, Colledge M, et al. (2003). "A-kinase anchoring protein 79/150 facilitates the phosphorylation of GABA(A) receptors by cAMP-dependent protein kinase via selective interaction with receptor beta subunits. ". Mol. Cell. Neurosci. 22 (1): 87–97. PMID 12595241.
External links
This article incorporates text from the United States National Library of Medicine, which is in the public domain. Medical Subject Headings ( MeSH) is a huge Controlled vocabulary (or metadata system for the purpose of indexing journal articles and books The United States National Library of Medicine ( NLM) operated by the United States federal government, is the world's largest Medical library. The public domain is a range of abstract materials &ndash commonly referred to as Intellectual property &ndash which are not owned or controlled by anyone