Gene: MFSD2A

Alternate names for this Gene: MCPH15|MFSD2|NEDMISBA|NLS1|SLC59A1

Gene Summary: 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1p34.2

Description of this Gene: major facilitator superfamily domain containing 2A

Type of Gene: protein-coding

rs2047007 in MFSD2A gene and RDW - Red blood cell distribution width result PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

rs2047007 in MFSD2A gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2047007 in MFSD2A gene and Red cell distribution width determination PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.