| Gene Symbol |
MFSD2A
|
| Entrez Gene |
84879
|
| Alt Symbol |
MFSD2, NLS1
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
major facilitator superfamily domain containing 2A
|
| Other Description |
major facilitator superfamily domain-containing protein 2A|sodium-dependent LPC symporter 1|sodium-dependent lysophosphatidylcholine symporter 1
|
| Swissprots |
Q96F59 A8K675 Q6UWU5 Q8NA29 Q9BRC8
|
| Accessions |
CAF86469 EAX07246 EAX07247 EAX07248 EAX07249 Q8NA29 AB073383 BAD38634 AF289609 AAL55793 AF370364 AAQ15200 AK027396 AK074186 AK075183 BAC11456 AK093223 BAC04100 AK291540 BAF84229 AK297991 BAG60299 AK301533 BAG63034 AL834184 AY358636 AAQ88999 BC006353 AAH06353 BC011587 AAH11587 BC092414 AAH92414 BP321361 DB376308 DC297497 XM_005271285 XP_005271342 XM_011542312 XP_011540614 XR_946783 NM_001136493 NP_001129965 NM_001287808 NP_001274737 NM_001287809 NP_001274738 NM_032793 NP_116182 NR_109896
|
| Function |
Sodium-dependent lysophosphatidylcholine (LPC) symporter, which plays an essential role for blood-brain barrier formation and function. Specifically expressed in endothelium of the blood-brain barrier of micro-vessels and transports LPC into the brain. 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. Transports LPC carrying long-chain fatty acids such LPC oleate and LPC palmitate with a minimum acyl chain length of 14 carbons. Does not transport docosahexaenoic acid in unesterified fatty acid. Specifically required for blood-brain barrier formation and function, probably by mediating lipid transport. Not required for central nervous system vascular morphogenesis (By similarity). Acts as a transporter for tunicamycin, an inhibitor of asparagine-linked glycosylation. In placenta, acts as a receptor for ERVFRD- 1/syncytin-2
|
| Subcellular Location |
Cell membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000305}. Note=Cytoplasmic punctae that may represent vesicles shuttling between the endoplasmic reticulum and the plasma membrane. {ECO:0000269|PubMed:21677192}.
|
| Tissue Specificity |
In placenta, associated with trophoblast cells. {ECO:0000269|PubMed:18988732}.
|
