MLC1

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.

Full Name

MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1

Function

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

Biological Process

Caveolin-mediated endocytosis Source: UniProtKB
Cellular response to cholesterol Source: UniProtKB
Ion transport Source: UniProtKB-KW
Positive regulation of intracellular transport Source: UniProtKB
Protein transport Source: Ensembl
Regulation of response to osmotic stress Source: UniProtKB
Vesicle-mediated transport Source: UniProtKB

Cellular Location

Endoplasmic reticulum
Plasma membrane
Cell membrane
Other locations
Membrane
perinuclear region

Involvement in disease

Leukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1):
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.