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Gene Review

ECA1  -  epilepsy, childhood absence 1

Homo sapiens

 
 
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Disease relevance of ECA1

 

High impact information on ECA1

  • Eca1 resides in the endoplasmic reticulum and restores growth of a yeast mutant defective in calcium homeostasis [2].
  • In a screen for morphology mutants defective in microtubule organization in the fungus Ustilago maydis, we identified eca1 that encodes a sarcoplasmic/endoplasmic calcium ATPase [2].
  • Accurately ordered STS markers within the physical map aided in the analysis of haplotypes and recombinations and reduced the ECA1 region to 1.5 Mb flanked by D8S554 and D8S502 [1].
  • Seventeen VDCC subunit genes, ten GABA(A)R subunit genes, two GABA(B) receptor genes and the ECA1 locus on 8q24 were investigated using 35 microsatellite loci [3].
  • Linkage analysis between childhood absence epilepsy and genes encoding GABAA and GABAB receptors, voltage-dependent calcium channels, and the ECA1 region on chromosome 8q [3].
 

Biological context of ECA1

 

Other interactions of ECA1

  • In the present communication, we show that T-STAR gene is located within the ECA1 region [5].
  • Tight junction protein (TJP1), which lies within the LP interval on ECA1, was used to determine the homologous chromosomes in humans (HSA15) and mice (mouse chromosome 7) [6].
  • Thus, negative results of mutation analyses and detailed physical mapping exclude JRK/JH8 as the ECA1 gene [7].
  • The environment and childhood asthma (ECA) study in Oslo: ECA-1 and ECA-2 [8].

References

  1. Childhood absence epilepsy in 8q24: refinement of candidate region and construction of physical map. Sugimoto, Y., Morita, R., Amano, K., Fong, C.Y., Shah, P.U., Castroviejo, I.P., Khan, S., Delgado-Escueta, A.V., Yamakawa, K. Genomics (2000) [Pubmed]
  2. Calcium signaling is involved in dynein-dependent microtubule organization. Adamíková, L., Straube, A., Schulz, I., Steinberg, G. Mol. Biol. Cell (2004) [Pubmed]
  3. Linkage analysis between childhood absence epilepsy and genes encoding GABAA and GABAB receptors, voltage-dependent calcium channels, and the ECA1 region on chromosome 8q. Robinson, R., Taske, N., Sander, T., Heils, A., Whitehouse, W., Goutières, F., Aicardi, J., Lehesjoki, A.E., Siren, A., Laue Friis, M., Kjeldsen, M.J., Panayiotopoulos, C., Kennedy, C., Ferrie, C., Rees, M., Gardiner, R.M. Epilepsy Res. (2002) [Pubmed]
  4. Construction of chromosome-specific paints for meta- and submetacentric autosomes and the sex chromosomes in the horse and their use to detect homologous chromosomal segments in the donkey. Raudsepp, T., Chowdhary, B.P. Chromosome Res. (1999) [Pubmed]
  5. T-STAR gene: fine mapping in the candidate region for childhood absence epilepsy on 8q24 and mutational analysis in patients. Sugimoto, Y., Morita, R., Amano, K., Shah, P.U., Pascual-Castroviejo, I., Khan, S., Delgado-Escueta, A.V., Yamakawa, K. Epilepsy Res. (2001) [Pubmed]
  6. Assignment of the appaloosa coat colour gene (LP) to equine chromosome 1. Terry, R.B., Archer, S., Brooks, S., Bernoco, D., Bailey, E. Anim. Genet. (2004) [Pubmed]
  7. Exclusion of the JRK/JH8 gene as a candidate for human childhood absence epilepsy mapped on 8q24. Morita, R., Miyazaki, E., Shah, P.U., Castroviejo, I.P., Delgado-Escueta, A.V., Yamakawa, K. Epilepsy Res. (1999) [Pubmed]
  8. The environment and childhood asthma (ECA) study in Oslo: ECA-1 and ECA-2. Lødrup Carlsen, K.C. Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology. (2002) [Pubmed]
 
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