GABRB3

Gamma-aminobutyric acid (GABA) A receptor, beta 3, also known as GABRB3, is a human gene.

PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2562| accessdate = ]

ee also

* GABAA receptor

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Saitoh S, Kubota T, Ohta T, "et al." |title=Familial Angelman syndrome caused by imprinted submicroscopic deletion encompassing GABAA receptor beta 3-subunit gene. |journal=Lancet |volume=339 |issue= 8789 |pages= 366–7 |year= 1992 |pmid= 1346439 |doi=
*cite journal | author=Wagstaff J, Chaillet JR, Lalande M |title=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. |journal=Genomics |volume=11 |issue= 4 |pages= 1071–8 |year= 1992 |pmid= 1664410 |doi=
*cite journal | author=Wagstaff J, Knoll JH, Fleming J, "et al." |title=Localization of the gene encoding the GABAA receptor beta 3 subunit to the Angelman/Prader-Willi region of human chromosome 15. |journal=Am. J. Hum. Genet. |volume=49 |issue= 2 |pages= 330–7 |year= 1991 |pmid= 1714232 |doi=
*cite journal | author=Russek SJ, Farb DH |title=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. |journal=Genomics |volume=23 |issue= 3 |pages= 528–33 |year= 1995 |pmid= 7851879 |doi= 10.1006/geno.1994.1539
*cite journal | author=Knoll JH, Cheng SD, Lalande M |title=Allele specificity of DNA replication timing in the Angelman/Prader-Willi syndrome imprinted chromosomal region. |journal=Nat. Genet. |volume=6 |issue= 1 |pages= 41–6 |year= 1994 |pmid= 8136833 |doi= 10.1038/ng0194-41
*cite journal | author=Tögel M, Mossier B, Fuchs K, Sieghart W |title=gamma-Aminobutyric acidA receptors displaying association of gamma 3-subunits with beta 2/3 and different alpha-subunits exhibit unique pharmacological properties. |journal=J. Biol. Chem. |volume=269 |issue= 17 |pages= 12993–8 |year= 1994 |pmid= 8175718 |doi=
*cite journal | author=Kirkness EF, Fraser CM |title=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). |journal=J. Biol. Chem. |volume=268 |issue= 6 |pages= 4420–8 |year= 1993 |pmid= 8382702 |doi=
*cite journal | author=Sinnett D, Wagstaff J, Glatt K, "et al." |title=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. |journal=Am. J. Hum. Genet. |volume=52 |issue= 6 |pages= 1216–29 |year= 1993 |pmid= 8389098 |doi=
*cite journal | author=Glatt K, Glatt H, Lalande M |title=Structure and organization of GABRB3 and GABRA5. |journal=Genomics |volume=41 |issue= 1 |pages= 63–9 |year= 1997 |pmid= 9126483 |doi= 10.1006/geno.1997.4639
*cite journal | author=Meguro M, Mitsuya K, Sui H, "et al." |title=Evidence for uniparental, paternal expression of the human GABAA receptor subunit genes, using microcell-mediated chromosome transfer. |journal=Hum. Mol. Genet. |volume=6 |issue= 12 |pages= 2127–33 |year= 1997 |pmid= 9328477 |doi=
*cite journal | author=Russek SJ |title=Evolution of GABA(A) receptor diversity in the human genome. |journal=Gene |volume=227 |issue= 2 |pages= 213–22 |year= 1999 |pmid= 10023064 |doi=
*cite journal | author=Buckley ST, Eckert AL, Dodd PR |title=Expression and distribution of GABAA receptor subtypes in human alcoholic cerebral cortex. |journal=Ann. N. Y. Acad. Sci. |volume=914 |issue= |pages= 58–64 |year= 2006 |pmid= 11085308 |doi=
*cite journal | author=Scapoli L, Martinelli M, Pezzetti F, "et al." |title=Linkage disequilibrium between GABRB3 gene and nonsyndromic familial cleft lip with or without cleft palate. |journal=Hum. Genet. |volume=110 |issue= 1 |pages= 15–20 |year= 2002 |pmid= 11810291 |doi= 10.1007/s00439-001-0639-5
*cite journal | author=Buxbaum JD, Silverman JM, Smith CJ, "et al." |title=Association between a GABRB3 polymorphism and autism. |journal=Mol. Psychiatry |volume=7 |issue= 3 |pages= 311–6 |year= 2002 |pmid= 11920158 |doi= 10.1038/sj.mp.4001011
*cite journal | author=Buhr A, Bianchi MT, Baur R, "et al." |title=Functional characterization of the new human GABA(A) receptor mutation beta3(R192H). |journal=Hum. Genet. |volume=111 |issue= 2 |pages= 154–60 |year= 2002 |pmid= 12189488 |doi= 10.1007/s00439-002-0766-7
*cite journal | author=Trudell J |title=Unique assignment of inter-subunit association in GABA(A) alpha 1 beta 3 gamma 2 receptors determined by molecular modeling. |journal=Biochim. Biophys. Acta |volume=1565 |issue= 1 |pages= 91–6 |year= 2002 |pmid= 12225856 |doi=
*cite journal | author=Sarto I, Wabnegger L, Dögl E, Sieghart W |title=Homologous sites of GABA(A) receptor alpha(1), beta(3) and gamma(2) subunits are important for assembly. |journal=Neuropharmacology |volume=43 |issue= 4 |pages= 482–91 |year= 2002 |pmid= 12367595 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Słopień A, Rajewski A, Budny B, Czerski P |title= [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] |journal=Psychiatr. Pol. |volume=36 |issue= 5 |pages= 779–91 |year= 2003 |pmid= 12491987 |doi=
*cite journal | author=Brandon NJ, Jovanovic JN, Colledge M, "et al." |title=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. |journal=Mol. Cell. Neurosci. |volume=22 |issue= 1 |pages= 87–97 |year= 2003 |pmid= 12595241 |doi=

External links

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