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 vesicle-mediated transport positive regulation of intracellular transport regulation of response to osmotic stress regulation of response to osmotic stress cellular response to cholesterol cellular response to cholesterol

Molecular function

protein binding identical protein binding protein-containing complex binding

Cellular component

cytoplasm lysosome lysosome endosome early endosome early endosome endoplasmic reticulum endoplasmic reticulum

via MyGene.info

Gene · Ensembl

modulator of VRAC current 1

Symbol: MLC1
Biotype: Protein coding
Organism: Homo sapiens
Location: 22:50,059,391-50,085,969
Strand: Reverse (−)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Show 5 more facts

HomoloGene ID: 15775
exact match: identifiers.org/ncbigene/23209
genomic end: 50524331
genomic start: 50497820
cytogenetic location: 22q13.33

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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.