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GLRA3  -  glycine receptor, alpha 3

Homo sapiens

Synonyms: Glycine receptor subunit alpha-3
 
 
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Disease relevance of GLRA3

 

High impact information on GLRA3

  • Using P1 artificial chromosome (PAC) clones, the structure of the GLRA3 gene was elucidated and its locus assigned to human chromosomal bands 4q33-q34 by fluorescence in situ hybridization [2].
  • Structural analysis of the GLRA3 gene revealed that the alpha3K transcript resulted from a complex splice event where excision of the novel exon 8A comprising the alternative sequence of 45 base pairs coincides with the persistence of a large intronic sequence in the 3'-untranslated region [2].
  • The human glycine receptor subunit alpha3. Glra3 gene structure, chromosomal localization, and functional characterization of alternative transcripts [2].
  • Sequence analysis of 5'-flanking regions of glycine receptor (GlyR) subunit genes revealed a consensus motif for NRSE in the GLRA1 and GLRA3, but not in GLRB, genes [3].
  • No pathogenic mutation was found, but two intronic polymorphisms were detected in the GLRB gene, and four intronic, three exonic, and one 3'-UTR polymorphisms were identified for the GLRA3 gene [1].
 

Biological context of GLRA3

  • The genotype frequencies for exonic and 3'-UTR polymorphisms in GLRA3 showed no statistically significant difference between IGE patients (n = 104) and an ethnically matched control group (n = 141) [1].
  • We tested the hypothesis that allelic variants of the glycine receptor subunit genes, GLRA3 and GLRB, both localized on chromosome 4q, confer susceptibility to common subtypes of IGE [1].
 

Analytical, diagnostic and therapeutic context of GLRA3

  • Subsequent screening for exonic and 3'-UTR polymorphisms in GLRA3 showed no statistical difference between a group of sporadic IGE patients (n = 104) and a control group (n = 141) [1].

References

  1. Genetic variation of the human glycine receptor subunit genes GLRA3 and GLRB and susceptibility to idiopathic generalized epilepsies. Sobetzko, D., Sander, T., Becker, C.M. Am. J. Med. Genet. (2001) [Pubmed]
  2. The human glycine receptor subunit alpha3. Glra3 gene structure, chromosomal localization, and functional characterization of alternative transcripts. Nikolic, Z., Laube, B., Weber, R.G., Lichter, P., Kioschis, P., Poustka, A., Mülhardt, C., Becker, C.M. J. Biol. Chem. (1998) [Pubmed]
  3. Relaxation of glycine receptor and onconeural gene transcription control in NRSF deficient small cell lung cancer cell lines. Neumann, S.B., Seitz, R., Gorzella, A., Heister, A., Doeberitz, M.K., Becker, C.M. Brain Res. Mol. Brain Res. (2004) [Pubmed]
 
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