SLC35F1

Chr 6

solute carrier family 35 member F1

Also known as: C6orf169, dJ230I3.1

NCBI Gene: 222553 ENSG00000196376 UniProt: Q5T1Q4

The protein is a putative solute transporter located in synaptic vesicle membranes that facilitates transmembrane transport of unknown substrates. Mutations cause autosomal recessive developmental and epileptic encephalopathy with movement abnormalities, typically presenting in infancy with seizures and neurodevelopmental delays. This gene is highly constrained against loss-of-function variants in the general population.

ResearchSummary from RefSeq, UniProt

Predicted to enable transmembrane transporter activity. Predicted to be involved in transmembrane transport. Located in synaptic vesicle membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

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.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.34

LOEUF· LoF intol.

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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