SLC2A3

Chr 12

solute carrier family 2 member 3

Also known as: GLUT3

NCBI Gene: 6515 ENSG00000059804 UniProt: P11169

SLC2A3 encodes GLUT3, a facilitative glucose transporter that mediates uptake of glucose and other monosaccharides across cell membranes, including transport across the blood-brain barrier. Mutations cause SLC2A3-related disorders with autosomal dominant inheritance, presenting with developmental delays, seizures, and movement disorders due to impaired brain glucose transport. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.65), reflecting its essential role in cellular glucose metabolism.

ResearchSummary from RefSeq, UniProt

Enables D-glucose binding activity; dehydroascorbic acid transmembrane transporter activity; and hexose transmembrane transporter activity. Involved in D-glucose import across plasma membrane; galactose transmembrane transport; and transport across blood-brain barrier. Located in plasma membrane. Biomarker of Alzheimer's disease; acanthosis nigricans; diabetes mellitus; and type 2 diabetes mellitus. [provided by Alliance of Genome Resources, Jun 2026]

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)

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P/LP submissions

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P/LP missense

0.65

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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