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CACNG3  -  calcium channel, voltage-dependent, gamma...

Homo sapiens

Synonyms: Neuronal voltage-gated calcium channel gamma-3 subunit, TARP gamma-3, Transmembrane AMPAR regulatory protein gamma-3, Voltage-dependent calcium channel gamma-3 subunit
 
 
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High impact information on CACNG3

  • Evidence for transmission disequilibrium (P</=0.01) was found for SNPs within a approximately 35 kb region of high LD encompassing the 5'UTR, exon 1 and part of intron 1 of CACNG3 [1].
  • A linkage disequilibrium (LD) map of CACNG3 was constructed using 23 single nucleotide polymorphisms (SNPs) [1].
  • Available evidence suggests that genes encoding brain expressed voltage-gated calcium channels, including CACNG3 on chromosome 16p12-p13.1, may represent susceptibility loci for CAE [1].
  • This evidence supports CACNG3 as a susceptibility locus in a subset of CAE patients.European Journal of Human Genetics (2007) 15, 463-472. doi:10.1038/sj.ejhg.5201783; published online 31 January 2007 [1].

References

  1. Linkage and association analysis of CACNG3 in childhood absence epilepsy. Everett, K.V., Chioza, B., Aicardi, J., Aschauer, H., Brouwer, O., Callenbach, P., Covanis, A., Dulac, O., Eeg-Olofsson, O., Feucht, M., Friis, M., Goutieres, F., Guerrini, R., Heils, A., Kjeldsen, M., Lehesjoki, A.E., Makoff, A., Nabbout, R., Olsson, I., Sander, T., Sirén, A., McKeigue, P., Robinson, R., Taske, N., Rees, M., Gardiner, M. Eur. J. Hum. Genet. (2007) [Pubmed]
 
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