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9.B.129 The Membrane Protein MLC1 (MLC1) Family

Defects in MLC1 are a cause of leukoencephalopathy megalencephalic with subcortical cysts type 1 (MLC1). MLC1 is a syndrome of cerebral leukoencephalopathy and megalencephaly characterized by ataxia, spasticity, seizures, delay in motor development and mild mental retardation. The brain appears swollen on magnetic resonance imaging, with diffuse white-matter abnormalities and the invariable presence of subcortical cysts in frontal and temporal lobes.  MLC1 interacts structurally and functionally with several ion/water channels and transporters and ion channel accessory proteins (Brignone et al. 2015).  MLC1 mutations cause MLC1and brain channelopathies.

References associated with 9.B.129 family:

Brignone, M.S., A. Lanciotti, S. Camerini, C. De Nuccio, T.C. Petrucci, S. Visentin, and E. Ambrosini. (2015). MLC1 protein: a likely link between leukodystrophies and brain channelopathies. Front Cell Neurosci 9: 66. 25883547