MFSD2

MFSD2A
Identifiers
Aliases	MFSD2A, MFSD2, NLS1, MCPH15, major facilitator superfamily domain containing 2A
External IDs	MGI: 1923824 HomoloGene: 19229 GeneCards: MFSD2A
Gene location (Human) Chr. Chromosome 1 (human) Band 1p34.2 Start 39,955,112 bp End 39,969,968 bp
Gene location (Mouse) Chr. Chromosome 4 (mouse) Band 4|4 D2.2 Start 122,946,850 bp End 122,961,188 bp
Gene ontology Molecular function • symporter activity • phospholipid transporter activity • fatty acid transporter activity • lysophospholipid transporter activity Cellular component • integral component of membrane • integral component of plasma membrane • endoplasmic reticulum membrane • endoplasmic reticulum • membrane • plasma membrane Biological process • lipid transport • fatty acid transport • transcytosis • lipid transport across blood brain barrier • transmembrane transport • establishment of blood-brain barrier • phosphatidylcholine biosynthetic process • hippocampus development • lysophospholipid transport • transport Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	84879	76574
Ensembl	ENSG00000168389	ENSMUSG00000028655
UniProt	Q8NA29 Q5SSK0	Q9DA75
RefSeq (mRNA)	NM_001136493 NM_001287808 NM_001287809 NM_032793 NM_001349821 NM_001349822 NM_001349823	NM_029662
RefSeq (protein)	NP_001129965 NP_001274737 NP_001274738 NP_116182 NP_001336750 NP_001336751 NP_001336752	NP_083938
Location (UCSC)	Chr 1: 39.96 – 39.97 Mb	Chr 1: 122.95 – 122.96 Mb
PubMed search

84879

76574

ENSG00000168389

ENSMUSG00000028655

Q8NA29
Q5SSK0

Q9DA75

NM_001349822
NM_001349823

NM_029662

NP_001336751
NP_001336752

NP_083938

Major facilitator superfamily domain-containing protein 2 (MFSD2 or MFSD2A) -- also known as sodium-dependent lysophosphatidylcholine symporter 1 -- is a protein that in humans is encoded by the MFSD2A gene. MFSD2A is a membrane transport protein that is expressed in the endothilium of the blood–brain barrier (BBB) and has an essential role in BBB formation and function.Genetic ablation of MFSD2A results in leaky BBB and increases central nervous system endothelial cell vesicular transcytosis without otherwise affecting tight junctions. MFSD2A is an atypical SLC, thus a predicted SLC transporter. It clusters phylogenetically to AMTF8.

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Wikipedia