SLC2A1

Chr 1

solute carrier family 2 member 1

Also known as: CSE, DYT17, DYT18, DYT9, EIG12, GLUT, GLUT-1, GLUT1

NCBI Gene: 6513ENSG00000117394UniProt: P11166

This gene encodes a major glucose transporter in the mammalian blood-brain barrier. The encoded protein is found primarily in the cell membrane and on the cell surface, where it can also function as a receptor for human T-cell leukemia virus (HTLV) I and II. Mutations in this gene have been found in a family with paroxysmal exertion-induced dyskinesia. [provided by RefSeq, Apr 2013]

Primary Disease Associations & Inheritance

UniProtGLUT1 deficiency syndrome 1
UniProtGLUT1 deficiency syndrome 2
UniProtEpilepsy, idiopathic generalized 12
UniProtDystonia 9
1246
ClinVar variants
139
Pathogenic / LP
0.99
pLI score· haploinsufficient
3
Active trials
Clinical Summary— SLC2A1
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.99). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
139 Pathogenic / Likely Pathogenic· 218 VUS of 1246 total submissions
💊
Clinical Trials
3 active or recruiting trials — potential therapeutic options may be available
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.24LOEUF
pLI 0.994
Z-score 3.90
OE 0.05 (0.02–0.24)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
2.93Z-score
OE missense 0.53 (0.46–0.60)
160 obs / 303.4 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.05 (0.02–0.24)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.53 (0.46–0.60)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.99
0≤1.21.6
LoF obs/exp: 1 / 19.7Missense obs/exp: 160 / 303.4Syn Z: 0.12

ClinVar Variant Classifications

1246 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic94
Likely Pathogenic45
VUS218
Likely Benign122
Benign4
Conflicting13
94
Pathogenic
45
Likely Pathogenic
218
VUS
122
Likely Benign
4
Benign
13
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
48
21
25
0
94
Likely Pathogenic
11
25
9
0
45
VUS
2
187
26
3
218
Likely Benign
0
1
60
61
122
Benign
0
0
4
0
4
Conflicting
—13
Total6123412464496

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

SLC2A1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Gene2Phenotype Curations

SLC2A1-related glucose transporter type 1 deficiency syndrome

definitive
ADLoss Of FunctionAbsent Gene Product
Dev. DisordersEye
G2P ↗

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
m(6)A-dependent glycolysis enhances colorectal cancer progression.
Shen C et al.·Mol Cancer
2020
Predicting potential therapeutic targets and small molecule drugs for early-stage lung adenocarcinoma.
Yu Y et al.·Biomed Pharmacother
2024
The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders.
Pérez-Dueñas B et al.·Mov Disord
2022
GLUT1 inhibition blocks growth of RB1-positive triple negative breast cancer.
Wu Q et al.·Nat Commun
2020
Uncovering the mechanism of resveratrol in the treatment of diabetic kidney disease based on network pharmacology, molecular docking, and experimental validation.
Chen S et al.·J Transl Med
2023Functional
Glut1 Deficiency Syndrome: Novel Pathomechanisms, Current Concepts, and Challenges.
Klepper J·J Inherit Metab Dis
2025Review
Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort.
Symonds JD et al.·Brain
2019Cohort
Dystonia.
Morgante F et al.·Continuum (Minneap Minn)
2013Review
Genetics of epilepsy.
Nolan D et al.·Handb Clin Neurol
2018Review
Identification of SLC2A1 as a predictive biomarker for survival and response to immunotherapy in lung squamous cell carcinoma.
Hao B et al.·Comput Biol Med
2024
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
The IGF2BP3/SLC2A1 axis mediates hsa_circ_0000376-Induced malignant progression and neutrophil N2 polarization in the lung adenocarcinoma microenvironment.
Lu Z et al.·J Mol Histol
2026
CRISPR/Cas9-mediated SLC2A1 gene knockout changes in energy metabolism and cellular behavior in human trophoblasts.
Park H et al.·Reproduction
2026
SLC2A1+ tumour-associated macrophages spatially control CD8+ T cell function and drive resistance to immunotherapy in non-small-cell lung cancer.
Wang L et al.·Nat Cell Biol
2026🔓 Open Access
Selective deletion of Slc2a1 from the RPE reveals that rods but not cones depend on glucose transport across the outer blood-retinal barrier.
Daniele LL et al.·iScience
2026🔓 Open Access
Physical exercise protects neurons from energy deficit and improves cognitive function by upregulating astrocytic Slc2a1 in Alzheimer's disease.
Li S et al.·Exp Neurol
2025
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
SarcopeniaAnemia Associated With Chronic Kidney Disease (CKD)Dialysis Patients

Hypoxia-inducible Factor Prolyl Hydroxylase Inhibitors on Sarcopenia in Hemodialysis Patients

NOT YET RECRUITING
NCT07162090Phase PHASE4Tianjin Medical University General HospitalStarted 2025-09-10
RoxadustatRecombinant human erythropoietin (EPO)
Anterior Cruciate Ligament Reconstruction

Immunometabolic Mechanisms of Blood Flow Restriction (BFR) Training After Anterior Cruciate Ligament Reconstruction

RECRUITING
NCT05012982Phase NAYale UniversityStarted 2023-02-16
AirBanduninflated AirBand
Epilepsy

Precision Medicine in the Treatment of Epilepsy

RECRUITING
NCT05450822Gitte Moos KnudsenStarted 2022-02-18
LevetiracetamLevetiracetam TabletsLamotrigine tablet

External Resources

Links to major genomics databases and tools