Megalencephalic Leukoencephalopathy With Subcortical Cysts 1 (MLC1)

MLC1 oligomerizes with itself in vivo. In the adult mouse brain, Mlc1 was detected preferentially in particular axonal tracts and in some astrocytes, concentrating in Bergmann glia, the astrocyte end-feet membranes adjacent to blood vessels, and in astrocyte-astrocyte membrane contact regions, as well as the ependyma and the pia mater.Northern blot analysis showed that expression of KIAA0027 was relatively high in brain. It was also expressed in peripheral white blood cells and spleen, with relatively low expression in ovary, prostate, placenta, thymus, and lung. No expression was observed in heart, liver, skeletal muscle, and several other tissues. MLC1, is expressed in brain, and alternative splice products were not detected. MLC1 encodes a membrane protein that may have a transport function for a specific substrate.