Leukodystrophy-related alanine-to-valine mutations in the transmembrane helix O disrupt protein homeostasis of human ClC-2 channel
Chia-Ying You, An-Ting Cheng, Chung-Jiuan Jeng, Chih-Yung Tang · FENS Forum 2024
The voltage-dependent chloride channel ClC-2 is a member of the CLC channel/transporter superfamily. A functional ClC-2 channel comprises a dimeric structure, with each monomer containing 18 intracellular or transmembrane α-helices (helices A to R). ClC-2 is ubiquitously expressed and has been detected in astrocytes and oligodendrocytes, where ClC-2 colocalizes with the adhesion molecule GlialCAM at astrocyte-astrocyte junctions. Mutations in human genes encoding ClC-2 or GlialCAM have been linked to the white matter disease leukodystrophy. A disease-causing mutation significantly increasing t
ePoster · Neuroscience