MFSD3

Chr 8

solute carrier family 33 member 2

Also known as: MFSD3

NCBI Gene: 113655 ENSG00000167700 UniProt: Q96ES6 OMIM: 619976

The protein functions as a transmembrane transporter involved in moving substances across cellular membranes. Mutations cause autosomal recessive developmental and epileptic encephalopathy with microcephaly, typically presenting in early infancy with severe intellectual disability, seizures, and brain malformations. The gene shows minimal constraint against loss-of-function variants, which is consistent with the recessive inheritance pattern observed in affected patients.

OMIM ResearchSummary from RefSeq

Predicted to enable transmembrane transporter activity. Predicted to be involved in transmembrane transport. Predicted to be located in plasma membrane. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.85

LOEUF

Mechanism· predicted