MFSD2A
Function
Sodium-dependent lysophosphatidylcholine (LPC) symporter, which plays an essential role for blood-brain barrier formation and function (PubMed:24828040, PubMed:32572202, PubMed:34135507). Specifically expressed in endothelium of the blood-brain barrier of micro-vessels and transports LPC into the brain (By similarity). Transport of LPC is essential because it constitutes the major mechanism by which docosahexaenoic acid (DHA), an omega-3 fatty acid that is essential for normal brain growth and cognitive function, enters the brain (PubMed:26005868, PubMed:34135507). Transports LPC carrying long-chain fatty acids such LPC oleate and LPC palmitate with a minimum acyl chain length of 14 carbons (By similarity). Does not transport docosahexaenoic acid in unesterified fatty acid (By similarity). Specifically required for blood-brain barrier formation and function, probably by mediating lipid transport (By similarity). Not required for central nervous system vascular morphogenesis (By similarity). Acts as a transporter for tunicamycin, an inhibitor of asparagine-linked glycosylation (PubMed:21677192). In placenta, acts as a receptor for ERVFRD-1/syncytin-2 and is required for trophoblast fusion (PubMed:18988732, PubMed:23177091).
Involvement in disease
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities
NEDMISBA
An autosomal recessive disorder characterized by impaired intellectual development with poor speech, progressive microcephaly, and appendicular spasticity. Brain imaging usually shows abnormalities, including enlarged ventricles, white matter defects, and atrophy or hypoplasia of brain tissue. Some patients have a more severe phenotype with seizures, lack of developmental milestones, and early death.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the major facilitator superfamily.
Tissue Specificity
In placenta, associated with trophoblast cells.
Cellular localization
- Cell membrane
- Multi-pass membrane protein
- Endoplasmic reticulum membrane
- Multi-pass membrane protein
- Cytoplasmic punctae that may represent vesicles shuttling between the endoplasmic reticulum and the plasma membrane (PubMed:21677192).
Alternative names
MFSD2, NLS1, HMFN0656, PP9177, UNQ300/PRO341, MFSD2A, Sodium-dependent lysophosphatidylcholine symporter 1, Sodium-dependent LPC symporter 1, Major facilitator superfamily domain-containing protein 2A, HsMFSD2A, MFSD2a