Gap junction protein 12

Abstract

Over the past two decades, several new genes causing leukodystrophies have been identified. Each discovery not only has illuminated the mechanism and pathology of the associated leukodystrophy, but also has resulted in a better understanding of the genes’ fundamental function in the development of the CNS. For example, identification of the proteolipid protein gene ( PLP1 ) mutation in Pelizaeus–Merzbacher disease (PMD)1,2 was followed by further discovery of the role of PLP as a mediator of intercellular signaling3, in oligodendroglial development,4 ion channel organization, and formation of axoglial junctions. Unearthing the glial fibrillary acidic protein ( GFAP ) gene mutation in Alexander disease,5 the ( MLC1 ) gene mutation in megalencephalic leukodystrophy with subcortical cysts,6 and the eukaryotic …