Gene Symbol | MFSD2A |
Entrez Gene ID | 84879 |
Full Name | major facilitator superfamily domain containing 2A |
Synonyms | MCPH15,MFSD2,NLS1 |
General protein information |
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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) |