MLC1

MLC1
Identifiers
Aliases	MLC1, LVM, MLC, VL, megalencephalic leukoencephalopathy with subcortical cysts 1, modulator of VRAC current 1
External IDs	OMIM: 605908; MGI: 2157910; HomoloGene: 15775; GeneCards: MLC1; OMA:MLC1 - orthologs
Gene location (Human)
Chr.	Chromosome 22 (human)
End	50,085,902 bp
Gene location (Mouse)
Chr.	Chromosome 15 (mouse)
End	88,863,210 bp
RNA expression pattern
	Top expressed in
	nucleus accumbens; ; ventricular zone; ; caudate nucleus; ; Amygdala; ; putamen; ; right frontal lobe; ; paraflocculus of cerebellum; ; Brodmann area 9; ; anterior cingulate cortex; ; Hypothalamus;
	Top expressed in
	optic nerve; ; arcuate nucleus; ; median eminence; ; deep cerebellar nuclei; ; globus pallidus; ; paraventricular nucleus of hypothalamus; ; dentate gyrus of hippocampal formation granule cell; ; spermatocyte; ; mammillary body; ; nucleus of stria terminalis;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	protein binding; protein-containing complex binding;
Cellular component	cytoplasm; integral component of membrane; recycling endosome; endosome; membrane; cell-cell junction; plasma membrane; basolateral plasma membrane; early endosome; apical plasma membrane; endoplasmic reticulum; perinuclear region of cytoplasm; caveola; membrane raft; lysosome; cytoplasmic vesicle; clathrin-coated vesicle;
Biological process	caveolin-mediated endocytosis; positive regulation of intracellular transport; ion transport; cellular response to cholesterol; regulation of response to osmotic stress; protein complex oligomerization; protein transport; vesicle-mediated transport;
	Sources:Amigo / QuickGO
Orthologs
	23209
	170790
	ENSG00000100427
	ENSMUSG00000035805
	Q15049
	Q8VHK5
	NM_015166; NM_139202
	NM_133241; NM_001364855
NP_055981; NP_631941; NP_001363401; NP_001363402; NP_001363403;
	NP_001363404; NP_001363405; NP_001363406; NP_001363407; NP_001363408; NP_001363409; NP_001363410; NP_001363411; NP_001363412; NP_001363413
	NP_573504; NP_001351784
	Wikidata
View/Edit Human	View/Edit Mouse

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.