MFSD2A
Sign in to saveAlso known as MFSD2, NLS1, MCPH15, major facilitator superfamily domain containing 2A, NEDMISBA, SLC59A1
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 endothelium 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 transpor
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Vinony's link graph records 9 inbound references to MFSD2A, and connects out to PubMed, endothelium and human chromosome 1.
It is catalogued under the topic Genes on human chromosome 1.
Vinony links it to 7 Wikipedia language editions.
Gene data
MFSD2A- Name
- MFSD2 lysolipid transporter A, lysophospholipid
- Type
- protein-coding
- Position
- 39,955,112–39,972,134 (+)
- Aliases
- HsMFSD2A, MCPH15, MFSD2, NEDMISBA, NLS1, SLC59A1
- Ensembl
- ENSG00000168389
- RefSeq RNA
- NM_001136493.3, NM_001287808.2, NM_001287809.2, NM_001349821.2, NM_001349822.2
- RefSeq protein
- NP_001129965.1, NP_001274737.1, NP_001274738.1, NP_001336750.1, NP_001336751.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
MFSD2 lysolipid transporter A, lysophospholipid
- Symbol
- MFSD2A
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 1:39,955,112-39,972,134
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 7 more facts
- HomoloGene ID
- 19229
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/84879
- genomic end
- 40435638
- genomic start
- 40420802
- chromosome
- human chromosome 1
- cytogenetic location
- 1p34.2
Sources (4)
via Wikidata · CC0
~2 min read
Encyclopedic overview
2 sectionsContents
- References
- Further reading
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 endothelium 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.
In addition to transport of other lysophosphatidylcholines across the BBB, MSFD2A is the primary mechanism for docosahexaenoic acid (DHA, an omega-3 fatty acid) uptake and transport into the brain. It may also be responsible for uptake and transport of tunicamycin.
Excerpted from Wikipedia’s “MFSD2A” article, available under the CC BY-SA 4.0 licence.
Available in 7 languages
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