Gaxiola R A, Yuan D S, Klausner R D, Fink G R
Whitehead Institute for Biomedical Research, Massachusetts Institute of Technology, Nine Cambridge Center, Cambridge, MA 02142-1479, USA.
Proc Natl Acad Sci U S A. 1998 Mar 31;95(7):4046-50. doi: 10.1073/pnas.95.7.4046.
A defect in the yeast GEF1 gene, a CLC chloride channel homolog leads to an iron requirement and cation sensitivity. The iron requirement is due to a failure to load Cu2+ onto a component of the iron uptake system, Fet3. This process, which requires both Gef1 and the Menkes disease Cu2+-ATPase yeast homolog Ccc2, occurs in late- or post-Golgi vesicles, where Gef1 and Ccc2 are localized. The defects of gef1 mutants can be suppressed by the introduction of Torpedo marmorata CLC-0 or Arabidopsis thaliana CLC-c and -d chloride channel genes. The functions of Gef1 in cation homeostasis provide clues to the understanding of diseases caused by chloride channel mutations in humans and cation toxicity in plants.
酵母GEF1基因（一种CLC氯通道同源物）的缺陷会导致对铁的需求以及对阳离子敏感。对铁的需求是由于无法将Cu2+加载到铁摄取系统的一个组件Fet3上。这个过程需要Gef1和门克斯病Cu2+-ATP酶酵母同源物Ccc2，发生在高尔基体晚期或后高尔基体囊泡中，Gef1和Ccc2定位于此处。gef1突变体的缺陷可以通过引入电鳐CLC-0或拟南芥CLC-c和-d氯通道基因来抑制。Gef1在阳离子稳态中的功能为理解人类氯通道突变引起的疾病以及植物中的阳离子毒性提供了线索。
