| Gene Symbol | MFSD2A |
| Entrez Gene ID | 84879 |
| Full Name | major facilitator superfamily domain containing 2A |
| Synonyms | MCPH15,MFSD2,NLS1 |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| 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. [provided by RefSeq, Mar 2017]. |
| Disorder MIM: | |
| Disorder Html: | Microcephaly 15, primary, autosomal recessive, 616486 (3) |
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