Anti-MLC1 Antibody Picoband® Fluoro488 Conjugated

The function of this gene product is unknown; however, homology to other proteins suggests that it may be an integral membrane transporter. Mutations in this gene have been associated with megalencephalic leukoencephalopathy with subcortical cysts, an autosomal recessive neurological disorder. Alternatively spliced transcript variants encoding different isoforms have been identified.

Functions in signal transduction from heterotrimeric G protein-coupled receptors. Binds to membranes containing phosphatidylinositol 4,5-bisphosphate. Can bind DNA (in vitro) . May contribute to the regulation of transcription in the nucleus. Could be involved in the hypothalamic regulation of body weight (By similarity) . Contribute to stimulation of phagocytosis of apoptotic retinal pigment epithelium (RPE) cells and macrophages. .

1. Duarri, A., Teijido, O., Lopez-Hernandez, T., Scheper, G. C., Barriere, H., Boor, I., Aguado, F., Zorzano, A., Palacin, M., Martinez, A., Lukacs, G. L., van der Knaap, M. S., Nunes, V., Estevez, R. Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects. Hum. Molec. Genet. 17: 3728-3739, 2008. 2. Ilja Boor, P. K., de Groot, K., Mejaski-Bosnjak, V., Brenner, C., van der Knaap, M. S., Scheper, G. C., Pronk, J. C. Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1. Hum. Mutat. 27: 505-512, 2006. 3. Leegwater, P. A. J., Boor, P. K. I., Yuan, B. Q., van der Steen, J., Visser, A., Konst, A. A. M., Oudejans, C. B. M., Schutgens, R. B. H., Pronk, J. C., van der Knaap, M. S. Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts. Hum. Genet. 110: 279-283, 2002. Note: Erratum: Hum. Genet. 111: 114 only, 2002.

Cytoplasm . Nucleus . Secreted . Cell membrane ; Peripheral membrane protein ; Cytoplasmic side . Binds phospholipid and is anchored to the plasma membrane through binding phosphatidylinositol 4,5-bisphosphate. Is released upon activation of phospholipase C. Translocates from the plasma membrane to the nucleus upon activation of guanine nucleotide-binding protein G (q) subunit alpha. Does not have a cleavable signal peptide and is secreted by a non-conventional pathway (By similarity) . .