| Species |
Homo sapiens |
| Alternate Name(s) |
MGC9051 |
| Description |
gamma-aminobutyric acid (GABA) A receptor, beta 3
|
| Chromosome |
15
|
| Locus |
15q11.2-q12 |
| Mouse Homolog |
Gabrb3
|
| Protein Alignment |
Homo sapiens:
Mus musculus:
 |
| Reference(s) |
Feucht M, Fuchs K, Pichlbauer E, Hornik K, Scharfetter J, Goessler R, Fureder T, Cvetkovic N, Sieghart W, Kasper S, Aschauer H. Possible association between childhood absence epilepsy and the gene encoding GABRB3. Biol Psychiatry. 1999 Oct 1;46(7):997-1002.
Guipponi M, Thomas P, Girard-Reydet C, Feingold J, Baldy-Moulinier M, Malafosse A. Lack of association between juvenile myoclonic epilepsy and GABRA5 and GABRB3 genes. Am J Med Genet. 1997 Apr 18;74(2):150-3.
Minassian BA, DeLorey TM, Olsen RW, Philippart M, Bronstein Y, Zhang Q, Guerrini R, Van Ness P, Livet MO, Delgado-Escueta AV. Angelman syndrome: correlations between epilepsy phenotypes and genotypes. Ann Neurol. 1998 Apr;43(4):485-93.
Robinson R, Taske N, Sander T, Heils A, Whitehouse W, Goutieres F, Aicardi J, Lehesjoki AE, Siren A, Laue Friis M, Kjeldsen MJ, Panayiotopoulos C, Kennedy C, Ferrie C, Rees M, Gardiner RM. Linkage analysis between childhood absence epilepsy and genes encoding GABAA and GABAB receptors, voltage-dependent calcium channels, and the ECA1 region on chromosome 8q. Epilepsy Res. 2002 Feb;48(3):169-79.
Tanaka M, Olsen RW, Medina MT, Schwartz E, Alonso ME, Duron RM, Castro-Ortega R, Martinez-Juarez IE, Pascual-Castroviejo I, Machado-Salas J, Silva R, Bailey JN, Bai D, Ochoa A, Jara-Prado A, Pineda G, Macdonald RL, Delgado-Escueta AV. Hyperglycosylation and Reduced GABA Currents of Mutated GABRB3 Polypeptide in Remitting Childhood Absence Epilepsy. Am J Hum Genet. 2008 Jun 6;82(6):1249-1261.
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