MFSD2A
Chr 1ARMFSD2 lysolipid transporter A, lysophospholipid
Also known as: HsMFSD2A, MCPH15, MFSD2, NEDMISBA, NLS1, SLC59A1
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.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MFSD2A · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools