Mutations in GlialCAM Can Cause the Leukodystrophy MLC

Mutations in GlialCAM Can Cause the Leukodystrophy MLC - Mutations in the cell adhesion molecule GlialCAM can cause the leukodystrophy MLC. Raul Estevez and colleagues find that GlialCAM acts as an auxiliary subunit of the chloride channel ClC-2 and can regulate both targeting of the channel to cell-cell junctions and its activity. Disease-causing mutations GLIALCAM lead to inappropriate localization of ClC-2, suggesting that defects in ClC-2 activity may contribute to MLC pathology.