Aliases for MFSD2A Gene
External Ids for MFSD2A Gene
Previous HGNC Symbols for MFSD2A Gene
Previous GeneCards Identifiers for MFSD2A Gene
The protein encoded by this gene is a transmembrane protein and sodium-dependent lysophosphatidylcholine transporter. The encoded protein is involved in the establishment of the blood-brain barrier and is required for brain growth and function. Defects in this gene are a cause of a progressive microcephaly syndrome. [provided by RefSeq, Mar 2017]
GeneCards Summary for MFSD2A Gene
MFSD2A (Major Facilitator Superfamily Domain Containing 2A) is a Protein Coding gene. Diseases associated with MFSD2A include Microcephaly 15, Primary, Autosomal Recessive and Primary Autosomal Recessive Microcephaly. Among its related pathways are Synthesis of PC and Metabolism. Gene Ontology (GO) annotations related to this gene include symporter activity and phospholipid transporter activity. An important paralog of this gene is MFSD2B.
UniProtKB/Swiss-Prot Summary for MFSD2A Gene
Sodium-dependent lysophosphatidylcholine (LPC) symporter, which plays an essential role for blood-brain barrier formation and function (By similarity). 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). 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).