MLC1

Identifiers

MLC1, LVM, MLC, VL, megalencephalic leukoencephalopathy with subcortical cysts 1

External IDs

Gene ontology
Molecular function	• transporter activity • protein complex binding • protein transporter activity • protein 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 oligomerization • transport • protein transport • vesicle-mediated transport
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


23209


170790


ENSG00000100427


ENSMUSG00000035805


Q15049


Q8VHK5

RefSeq (mRNA)


NM_015166 NM_139202


NM_133241

RefSeq (protein)


NP_055981 NP_631941


NP_573504

Location (UCSC)

PubMed search

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.

The function of this gene product is unknown; however, homology to other proteins suggests that it may be an integral membrane transport protein. Mutations in this gene have been associated with megalencephalic leukoencephalopathy with subcortical cysts, an autosomal recessive neurological disorder.