CACNA1H基因介绍

  • 凤凰
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CACNA1H基因介绍 was created by 凤凰

基因产物:T-型钙离子通道α1H亚基。

蛋白功能:主要在中枢神经元和心脏结细胞中起起搏作用以及在肾上腺中参与醛固酮生成的调节。参与电压敏感型钙离子通道的组成,产生T型钙电流。

相关疾病:家族性醛固酮增多症IV型(AD)[1]; 儿童失神癫痫 (易感基因)[2];特发性全面性癫痫(易感基因)[3]; 


参考文献
  1. Scholl, U.I., et al., Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism.Elife, 2015. 4: p. e06315.
  2. Chen, Y., et al., Association between genetic variation of CACNA1H and childhood absence epilepsy.Ann Neurol, 2003. 54(2): p. 239-43.
  3. Heron, S.E., et al., Genetic variation of CACNA1H in idiopathic generalized epilepsy.Ann Neurol, 2004. 55(4): p. 595-6.
25 May 2022 15:10 #1

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