Entrez Summary: 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].
UniProt Summary: Regulates the response of astrocytes to hypo-osmosis by promoting calcium influx. {ECO:0000269|PubMed:22328087}.
Pfam DomainsGO Terms
Pfam Domains
No Pfam Domain information is available for this gene.
GO Terms
caveolin-mediated endocytosis
regulation of response to osmotic stress
cellular response to cholesterol
cellular response to sterol
response to cholesterol
response to sterol
clathrin-coated vesicle
caveola
cellular response to alcohol
recycling endosome
cell-cell junction
basolateral plasma membrane
positive regulation of intracellular transport
membrane raft
response to alcohol
lysosome
cytoplasmic vesicle
early endosome
protein-containing complex binding
endosome
apical plasma membrane
regulation of intracellular transport
protein complex oligomerization
cellular response to lipid
cellular response to organic cyclic compound
endocytosis
import into cell
perinuclear region of cytoplasm
response to lipid
regulation of cellular localization
response to organic cyclic compound
positive regulation of transport
endoplasmic reticulum
cellular response to oxygen-containing compound
ion transport
regulation of response to stress
protein transport
peptide transport
response to oxygen-containing compound
protein-containing complex assembly
amide transport
establishment of protein localization
nitrogen compound transport
protein-containing complex subunit organization
regulation of transport
vesicle-mediated transport
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)