MFSD2A

Chr 1

MFSD2 lysolipid transporter A, lysophospholipid

Also known as: HsMFSD2A, MCPH15, MFSD2, NEDMISBA, NLS1, SLC59A1

NCBI Gene: 84879 ENSG00000168389 UniProt: Q8NA29

The encoded protein is a sodium-dependent lysophosphatidylcholine transporter that is essential for blood-brain barrier formation and function, specifically transporting docosahexaenoic acid (DHA) and other long-chain fatty acids into the brain. Mutations cause neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities with autosomal recessive inheritance. The progressive nature of the microcephaly reflects the protein's critical role in ongoing brain growth and cognitive function.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.54

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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