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MFSD2A Gene(Protein Coding)

Major Facilitator Superfamily Domain Containing 2A

GCID:
GC01P039955
GIFtS:
48
Genes Participants
UDN Logo

Aliases for MFSD2A Gene

Aliases for MFSD2A Gene

  • Major Facilitator Superfamily Domain Containing 2A 2 3 5
  • Major Facilitator Superfamily Domain-Containing Protein 2A 3 4
  • Sodium-Dependent LPC Symporter 1 3 4
  • MFSD2 3 4
  • NLS1 3 4
  • Sodium-Dependent Lysophosphatidylcholine Symporter 1 3
  • Major Facilitator Superfamily Domain Containing 2 2
  • MCPH15 3

External Ids for MFSD2A Gene

Previous HGNC Symbols for MFSD2A Gene

  • MFSD2

Previous GeneCards Identifiers for MFSD2A Gene

  • GC01P040194
  • GC01P040421
  • GC01P038539

Summaries for MFSD2A Gene

Entrez Gene Summary 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 Microcephaly. Among its related pathways are Metabolism and Glycerophospholipid biosynthesis. 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 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).

Gene Wiki entry for MFSD2A Gene

Additional gene information for MFSD2A Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MFSD2A Gene

Genomics for MFSD2A Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for MFSD2A Gene

Promoters and enhancers for MFSD2A Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH01I039954 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.4 355 2.4 ZFP64 GLI4 ZNF2 ZNF48 GLIS2 ATF7 RUNX3 SP3 RXRA NFYC MFSD2A MYCL CAP1 TRIT1 ENSG00000202222 RPS2P12
GH01I039962 Promoter 0.8 EPDnew 550.4 +7.4 7393 0.1 JUND HLF HNF4G RAD21 RPS2P12 MFSD2A MYCL CAP1 TRIT1 ENSG00000202222 LOC105378668
GH01I039959 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 7.9 +5.5 5476 1.6 HDGF CTCF SMAD1 MAX EBF1 ZIC2 YY1 ZNF121 POLR2A HNF4G RPS2P12 MYCL CAP1 ENSG00000202222 TRIT1 LOC105378668 MFSD2A
GH01I039952 Enhancer 0.7 ENCODE dbSUPER 6.4 -2.5 -2537 1.1 SOX5 ZNF664 SOX13 NFIA HLF MYCL TRIT1 ENSG00000202222 CAP1 MFSD2A GC01P039946
GH01I039946 Enhancer 0.6 ENCODE 7.1 -7.7 -7692 1.7 RXRA MAX REST RAD21 YY1 JUND ATF3 HNF4G HNF4A GC01P039946 TRIT1 MYCL ENSG00000202222 CAP1 LOC105378668 MFSD2A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MFSD2A on UCSC Golden Path with GeneCards custom track

Genomic Locations for MFSD2A Gene

Genomic Locations for MFSD2A Gene
chr1:39,955,112-39,969,968
(GRCh38/hg38)
Size:
14,857 bases
Orientation:
Plus strand
chr1:40,420,784-40,435,638
(GRCh37/hg19)

Genomic View for MFSD2A Gene

Genes around MFSD2A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MFSD2A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MFSD2A Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MFSD2A Gene

Proteins for MFSD2A Gene

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  • Protein details for MFSD2A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NA29-NLS1_HUMAN
    Recommended name:
    Sodium-dependent lysophosphatidylcholine symporter 1
    Protein Accession:
    Q8NA29
    Secondary Accessions:
    • A8K675
    • Q6UWU5
    • Q96F59
    • Q9BRC8

    Protein attributes for MFSD2A Gene

    Size:
    543 amino acids
    Molecular mass:
    60170 Da
    Quaternary structure:
    • Interacts with ERVFRD-1/syncytin-2.

    Alternative splice isoforms for MFSD2A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MFSD2A Gene

Protein Expression for MFSD2A Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for MFSD2A Gene

Other Protein References for MFSD2A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MFSD2A Gene

Domains & Families for MFSD2A Gene

Gene Families for MFSD2A Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for MFSD2A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MFSD2A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NA29

UniProtKB/Swiss-Prot:

NLS1_HUMAN :
  • Belongs to the major facilitator superfamily.
Family:
  • Belongs to the major facilitator superfamily.
genes like me logo Genes that share domains with MFSD2A: view

Function for MFSD2A Gene

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  2. CRISPR
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Molecular function for MFSD2A Gene

UniProtKB/Swiss-Prot Function:
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).

Phenotypes From GWAS Catalog for MFSD2A Gene

Gene Ontology (GO) - Molecular Function for MFSD2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005548 phospholipid transporter activity TAS --
GO:0015245 fatty acid transmembrane transporter activity IEA,ISS 24828044
GO:0015293 symporter activity ISS --
GO:0051978 lysophospholipid transporter activity IEA,IDA 24828044
genes like me logo Genes that share ontologies with MFSD2A: view
genes like me logo Genes that share phenotypes with MFSD2A: view

Human Phenotype Ontology for MFSD2A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MFSD2A Gene

MGI Knock Outs for MFSD2A:

Animal Model Products

  • Taconic Biosciences Mouse Models for MFSD2A

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MFSD2A Gene

Localization for MFSD2A Gene

Subcellular locations from UniProtKB/Swiss-Prot for MFSD2A Gene

Cell membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein. Note=Cytoplasmic punctae that may represent vesicles shuttling between the endoplasmic reticulum and the plasma membrane (PubMed:21677192). {ECO:0000269 PubMed:21677192}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MFSD2A gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 3
cytosol 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Cytoplasmic bodies (2)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MFSD2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IEA,ISS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with MFSD2A: view

Pathways & Interactions for MFSD2A Gene

genes like me logo Genes that share pathways with MFSD2A: view

Interacting Proteins for MFSD2A Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000361895%0d%0a9606.ENSP00000362424%0d%0a9606.ENSP00000378356%0d%0a9606.ENSP00000301072%0d%0a9606.ENSP00000314499%0d%0a9606.ENSP00000352456%0d%0a
Selected Interacting proteins: ENSP00000361895 Q8NA29-NLS1_HUMAN for MFSD2A Gene via STRING IID

Gene Ontology (GO) - Biological Process for MFSD2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006656 phosphatidylcholine biosynthetic process TAS --
GO:0006810 transport IEA --
GO:0006869 lipid transport IEA --
GO:0015908 fatty acid transport ISS,IEA --
GO:0021766 hippocampus development IEA,ISS 24828044
genes like me logo Genes that share ontologies with MFSD2A: view

No data available for SIGNOR curated interactions for MFSD2A Gene

Drugs & Compounds for MFSD2A Gene

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  1. Drug
No Compound Related Data Available

Transcripts for MFSD2A Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for MFSD2A Gene

(9) REFSEQ mRNAs :
(16) Additional mRNA sequences :
(232) Selected AceView cDNA sequences:
(10) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MFSD2A Gene

Major facilitator superfamily domain containing 2A:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MFSD2A Gene

No ASD Table

Relevant External Links for MFSD2A Gene

GeneLoc Exon Structure for
MFSD2A
ECgene alternative splicing isoforms for
MFSD2A

Expression for MFSD2A Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MFSD2A Gene

mRNA expression in normal human tissues for MFSD2A Gene
mRNA expression by GTEx for MFSD2A GenemRNA expression by BioGPS for MFSD2A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MFSD2A Gene

This gene is overexpressed in Liver (x13.0), Skin - Not Sun Exposed (Suprapubic) (x6.5), and Skin - Sun Exposed (Lower leg) (x4.6).

Protein differential expression in normal tissues from HIPED for MFSD2A Gene

This gene is overexpressed in Placenta (52.2) and Liver (16.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MFSD2A Gene



Protein tissue co-expression partners for MFSD2A Gene

NURSA nuclear receptor signaling pathways regulating expression of MFSD2A Gene:

MFSD2A

SOURCE GeneReport for Unigene cluster for MFSD2A Gene:

Hs.655177

mRNA Expression by UniProt/SwissProt for MFSD2A Gene:

Q8NA29-NLS1_HUMAN
Tissue specificity: In placenta, associated with trophoblast cells.

Evidence on tissue expression from TISSUES for MFSD2A Gene

  • Nervous system(4.8)
  • Eye(4.2)
  • Muscle(4.1)
  • Liver(2.7)
  • Lung(2.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MFSD2A Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • kidney
Pelvis:
  • pelvis
  • ureter
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with MFSD2A: view

Orthologs for MFSD2A Gene

This gene was present in the common ancestor of chordates.

Orthologs for MFSD2A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia MFSD2A 33 34
  • 99.45 (n)
dog
(Canis familiaris)
 Mammalia MFSD2A 33 34
  • 88.97 (n)
cow
(Bos Taurus)
 Mammalia MFSD2 34
  • 87 (a)
 OneToOne
MFSD2A 33
  • 86.67 (n)
rat
(Rattus norvegicus)
 Mammalia Mfsd2a 33
  • 84.37 (n)
mouse
(Mus musculus)
 Mammalia Mfsd2a 33 16 34
  • 84.25 (n)
oppossum
(Monodelphis domestica)
 Mammalia MFSD2A 34
  • 81 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia MFSD2A 34
  • 72 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves MFSD2A 33 34
  • 74.9 (n)
lizard
(Anolis carolinensis)
 Reptilia MFSD2A 34
  • 73 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia mfsd2a 33
  • 67.32 (n)
zebrafish
(Danio rerio)
 Actinopterygii mfsd2ab 33 34
  • 65.12 (n)
mfsd2aa 34
  • 58 (a)
 OneToMany
Species where no ortholog for MFSD2A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MFSD2A Gene

ENSEMBL:
Gene Tree for MFSD2A (if available)
TreeFam:
Gene Tree for MFSD2A (if available)

Paralogs for MFSD2A Gene

Paralogs for MFSD2A Gene

(1) SIMAP similar genes for MFSD2A Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with MFSD2A: view

Variants for MFSD2A Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for MFSD2A Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1057517688 15, primary, autosomal recessive (MCPH15) [MIM:616486], pathogenic, Primary autosomal recessive microcephaly 15 39,965,333(+) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1057517689 15, primary, autosomal recessive (MCPH15) [MIM:616486], pathogenic, Primary autosomal recessive microcephaly 15 39,965,490(+) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1057519087 pathogenic, Primary autosomal recessive microcephaly 15 39,967,632(+) C/T coding_sequence_variant, intron_variant, missense_variant
rs1060499570 uncertain-significance, Primary autosomal recessive microcephaly 15 39,965,961(+) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs894380424 Microcephaly 15, primary, autosomal recessive (MCPH15) [MIM:616486] p.Ser352Leu

Structural Variations from Database of Genomic Variants (DGV) for MFSD2A Gene

Variant ID Type Subtype PubMed ID
esv2758933 CNV loss 17122850
nsv945896 CNV duplication 23825009

Variation tolerance for MFSD2A Gene

Residual Variation Intolerance Score: 21.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.87; 35.03% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MFSD2A Gene

Human Gene Mutation Database (HGMD)
MFSD2A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MFSD2A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MFSD2A Gene

Disorders for MFSD2A Gene

MalaCards: The human disease database

(2) MalaCards diseases for MFSD2A Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
microcephaly 15, primary, autosomal recessive
  • mcph15
microcephaly
  • microcephalus
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NLS1_HUMAN
  • Microcephaly 15, primary, autosomal recessive (MCPH15) [MIM:616486]: A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. {ECO:0000269 PubMed:26005865, ECO:0000269 PubMed:26005868}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MFSD2A

Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MFSD2A: view

No data available for Genatlas for MFSD2A Gene

Publications for MFSD2A Gene

  1. Mfsd2a encodes a novel major facilitator superfamily domain-containing protein highly induced in brown adipose tissue during fasting and adaptive thermogenesis. (PMID: 18694395) Angers M … Jetten AM (The Biochemical journal 2008) 2 3 4 58
  2. A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome. (PMID: 26005865) Alakbarzade V … Crosby AH (Nature genetics 2015) 3 4 58
  3. Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome. (PMID: 26005868) Guemez-Gamboa A … Gleeson JG (Nature genetics 2015) 3 4 58
  4. Mfsd2a is critical for the formation and function of the blood-brain barrier. (PMID: 24828040) Ben-Zvi A … Gu C (Nature 2014) 2 3 58
  5. Mfsd2a is a transporter for the essential omega-3 fatty acid docosahexaenoic acid. (PMID: 24828044) Nguyen LN … Silver DL (Nature 2014) 2 3 58

Products for MFSD2A Gene

Sources for MFSD2A Gene

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