MLC1 cDNA Clone – Megalencephalic Leukoencephalopathy with Subcortical Cysts 1 (Human)

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. [provided by RefSeq, Jul 2008]

MLC1: Regulates the response of astrocytes to hypo-osmosis by promoting calcium influx. 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.

Protein type: Transporter; Membrane protein, integral; Cell surface; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 22q13.33

Cellular Component: basolateral plasma membrane; caveola; clathrin-coated vesicle; cytoplasm; cytoplasmic vesicle; early endosome; endoplasmic reticulum; endosome; integral to membrane; lipid raft; lysosome; perinuclear region of cytoplasm; plasma membrane; recycling endosome

Molecular Function: protein binding; protein complex binding; protein transporter activity

Biological Process: positive regulation of intracellular transport; protein oligomerization; regulation of response to osmotic stress; vesicle-mediated transport

Disease: Megalencephalic Leukoencephalopathy With Subcortical Cysts 1