MLC1

Also known as LVM, MLC, VL, megalencephalic leukoencephalopathy with subcortical cysts 1, modulator of VRAC current 1

Membrane protein MLC1 is a protein that in humans is encoded by the MLC1 gene.

Gene data

MLC1

Name: modulator of VRAC current 1
Type: protein-coding
Position: 50,059,391–50,085,969 (−)
Aliases: LVM, MLC, VL
Ensembl: ENSG00000100427
RefSeq RNA: NM_001376472.1, NM_001376473.1, NM_001376474.1, NM_001376475.1, NM_001376476.1
RefSeq protein: NP_001363401.1, NP_001363402.1, NP_001363403.1, NP_001363404.1, NP_001363405.1

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].

Gene Ontology

Biological process

protein transport vesicle-mediated transport

Article

4 sections

Contents

Function
References
Further reading
External links

Membrane protein MLC1 is a protein that in humans is encoded by the MLC1 gene.

MLC1 (also called WKL1) is the only human gene currently associated with megalencephalic leukoencephalopathy with subcortical cysts (MLC). Evidence exists for at least one other gene for MLC, but it has not been mapped or identified.