Rabbit anti-Human MFSD2A Polyclonal Antibody

Uniprot Id

Q8NA29

Target Species

Human

Target Name

MFSD2A

Target Full Name

Sodium-dependent lysophosphatidylcholine symporter 1

Target 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. Acts as a transporter for tunicamycin, an inhibitor of asparagine-linked glycosylation. In placenta, acts as a receptor for ERVFRD-1/syncytin-2 and is required for trophoblast fusion.

Target Involvement

Microcephaly 15, primary, autosomal recessive (MCPH15)

Target Subcellular Location

Cell membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein.

Target Protein Families

Major facilitator superfamily

Target Tissue Specificity

In placenta, associated with trophoblast cells.

Target Synonyms

1700018O18Rik; FLJ14490; FLJ35904; Major facilitator superfamily domain containing 2; Major facilitator superfamily domain containing 2A; Major facilitator superfamily domain-containing protein 2A; MFS2A_HUMAN; MFSD2; MFSD2A; RGD1310174; RP23-121J14.3

Target Background

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.