Membrane protein MLC1 (MLC1)

Membrane protein MLC1 is a transmembrane protein, most highly expressed in brain astroglial cells, that fine-tunes cell junctions by regulating the strength of adhesion and possibly the transport of fluids and small molecules across the blood-brain barrier. MLC1 modulates VRAC currents, but is not a pore-forming subunit of the channel itself—instead, it acts as a regulatory accessory protein, possibly via interaction with GlialCAM and other partners. Pathogenic mutations in the gene cause most cases of megalencephalic leukoencephalopathy with subcortical cysts, a rare neurological disorder marked by macrocephaly, movement impairment, and seizures. Emerging research suggests an autoimmune role, with MLC1 as a potential antigenic target in multiple sclerosis[1][3][5][7][9].

Other names

KIAA0027LVMmegalencephalic leukoencephalopathy with subcortical cysts 1 gene productMLCMLC1_HUMANWKL1Modulator of VRAC current 1

For potential therapies, mechanisms would involve modulation of VRAC currents in astroglial cells, restoration of normal ion and fluid homeostasis, and possibly immune modulation. In autoimmune disease (multiple sclerosis), immune responses may target MLC1.