Sodium-dependent lysophosphatidylcholine symporter 1

Definition

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 (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. 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. In placenta, acts as a receptor for ERVFRD-1/syncytin-2 and is required for trophoblast fusion.

References:

[1]. C Toufaily, et al. MFSD2a, the Syncytin-2 receptor, is important for trophoblast fusion. Placenta. 2013 Jan;34(1):85-8. [Content Brief]

[2]. Ayal Ben-Zvi, et al. Mfsd2a is critical for the formation and function of the blood-brain barrier. Nature. 2014 May 22;509(7501):507-11. [Content Brief]

[3]. Rosemary J Cater, et al. Structural basis of omega-3 fatty acid transport across the blood-brain barrier. Nature. 2021 Jul;595(7866):315-319. [Content Brief]

[4]. Cécile Esnault, et al. A placenta-specific receptor for the fusogenic, endogenous retrovirus-derived, human syncytin-2. Proc Natl Acad Sci U S A. 2008 Nov 11;105(45):17532-7. [Content Brief]

[5]. Alicia Guemez-Gamboa, et al. Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome. Nat Genet. 2015 Jul;47(7):809-13. [Content Brief]

[6]. Marcello Scala, et al. Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features. Eur J Hum Genet. 2020 Nov;28(11):1509-1519. [Content Brief]

[7]. Jan H Reiling, et al. A haploid genetic screen identifies the major facilitator domain containing 2A (MFSD2A) transporter as a key mediator in the response to tunicamycin. Proc Natl Acad Sci U S A. 2011 Jul 19;108(29):11756-65. [Content Brief]

生物医学辞典

生物医学辞典は、生物学の学術用語と専門データの包括的で専門的なデータベースです。すべての説明は、権威ある書籍や高いＩＦの文献に基づいており、知りたい生物医学用語の正確な説明を得ることができます。

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