Basic & Clinical Medicine ›› 2010, Vol. 30 ›› Issue (9): 999-1001.

• 短篇综述 • Previous Articles     Next Articles

Progress in ClC Mutant and its related Diseases

Hai-feng ZHANG, Zhi-quan BAI, Li-xin CHEN, Li-wei WANG   

  1. Medical College, Jinan University Medical College, Jinan University
  • Received:2009-07-27 Revised:2009-10-17 Online:2010-09-05 Published:2010-09-05
  • Contact: Li-wei WANG

Abstract: ClC are chloride family proteins helping chloride ion transmembrane, which participated in a variety of physiological and pathological processes. Dysfunctional ClC protein induced by gene mutation could change the characters of channel gate and disturb chloride ion transmembrane, resulting in congenital myotonia, idiopathic epilepsy, Bartter's syndrome, Dent's disease, retina degeneration, osteopetrosis etc.

Key words: chloride ion, chloride ion channel, gene mutation