Article
TMEM16E (GDD1) exhibits protein instability and distinct characteristics in chloride channel/pore forming ability.
Journal of cellular physiology - 1 Feb 2014
Tran Ta To, Tobiume Kei, Hirono Chikara, Fujimoto Shinichi, Mizuta Kuniko, Kubozono Kazumi, Inoue Hiroshi, Itakura Mitsuo, Sugita Makoto, Kamata Nobuyuki
Abstract excerpt
TMEM16E/GDD1 has been shown to be responsible for the bone-related late-onset disease gnathodiaphyseal dysplasia (GDD), with the dominant allele (TMEM16E(gdd) ) encoding a missense mutation at Cys356. Additionally, several recessive loss-of-function alleles of TMEM16E also cause late-onset limb girdle muscular dystrophy. In this study, we found that TMEM16E was rapidly degraded via the proteasome pathway, which...
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