Glucose-6-phosphate transport defect: genes and variants
Glucose-6-phosphate transport defect is linked to 1 analyzed protein (SLC37A4). 30 DNA variants are known to cause it; 312 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Glucose-6-phosphate transport defect
SLC37A4: Glucose-6-phosphate exchanger SLC37A4
It transports glucose-6-phosphate into the endoplasmic reticulum so glucose-6-phosphatase can release free glucose during fasting. Biallelic loss-of-function variants cause glycogen storage disease type Ib, with fasting hypoglycemia, hepatomegaly, neutropenia, and inflammatory bowel disease.
30 disease-causing and 312 uncertain variants in SLC37A4 are linked to Glucose-6-phosphate transport defect.
Where Glucose-6-phosphate transport defect variants cluster
- SLC37A4 Transmembrane (positions 139–159): 4 of 30 disease-causing changes, 2.7× more than its size predicts.
- SLC37A4 Transmembrane (positions 12–33): 4 of 30 disease-causing changes, 2.6× more than its size predicts.
- SLC37A4 Transmembrane (positions 102–118): 3 of 30 disease-causing changes, 2.5× more than its size predicts.
- SLC37A4 Transmembrane (positions 50–70): 3 of 30 disease-causing changes, 2.0× more than its size predicts.
- SLC37A4 Transmembrane (positions 329–349): 3 of 30 disease-causing changes, 2.0× more than its size predicts.
Known disease-causing variants in Glucose-6-phosphate transport defect
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SLC37A4 G149E | 149 | Transmembrane | Disease-causing (★★) |
| SLC37A4 G339D | 339 | Transmembrane | Disease-causing (★★) |
| SLC37A4 R28C | 28 | Transmembrane | Disease-causing (★★) |
| SLC37A4 R28H | 28 | Transmembrane | Disease-causing (★★) |
| SLC37A4 G150R | 150 | Transmembrane | Disease-causing (★★) |
| SLC37A4 G339C | 339 | Transmembrane | Disease-causing (★★) |
| SLC37A4 G50R | 50 | Transmembrane | Disease-causing (★★) |
| SLC37A4 G68R | 68 | Transmembrane | Disease-causing (★★) |
| SLC37A4 G83E | 83 | Transmembrane | Disease-causing (★★) |
| SLC37A4 G122E | 122 | Cytoplasmic | Disease-causing (★★) |
| SLC37A4 P153L | 153 | Transmembrane | Disease-causing (★★) |
| SLC37A4 C183R | 183 | Transmembrane | Disease-causing (★★) |
| SLC37A4 P191L | 191 | Cytoplasmic | Disease-causing (★★) |
| SLC37A4 R300C | 300 | Cytoplasmic | Disease-causing (★★) |
| SLC37A4 H301P | 301 | Cytoplasmic | Disease-causing (★★) |
| SLC37A4 G20D | 20 | Transmembrane | Disease-causing (★★) |
| SLC37A4 W118R | 118 | Transmembrane | Disease-causing (★★) |
| SLC37A4 S55R | 55 | Transmembrane | Disease-causing (★) |
| SLC37A4 A148V | 148 | Transmembrane | Disease-causing (★) |
| SLC37A4 M1V | 1 | Cytoplasmic | Disease-causing (★) |
| SLC37A4 G111D | 111 | Transmembrane | Disease-causing (★) |
| SLC37A4 G115E | 115 | Transmembrane | Disease-causing (★) |
| SLC37A4 L186P | 186 | Transmembrane | Disease-causing (★) |
| SLC37A4 W246R | 246 | Transmembrane | Disease-causing (★) |
| SLC37A4 S263N | 263 | Lumenal | Disease-causing (★) |
| SLC37A4 L348P | 348 | Transmembrane | Disease-causing (★) |
| SLC37A4 A367T | 367 | Transmembrane | Disease-causing (★) |
| SLC37A4 Y24H | 24 | Transmembrane | Disease-causing |
| SLC37A4 G209S | 209 | Cytoplasmic | Disease-causing |
| SLC37A4 A280P | 280 | Transmembrane | Disease-causing |
Diseases related to Glucose-6-phosphate transport defect
- Glycogen storage disease, also linked to SLC37A4
- Glycogen storage disease due to glucose-6-phosphatase deficiency, also linked to SLC37A4
- Congenital disorder of glycosylation, type IIw, also linked to SLC37A4
- Phosphate transport defect, also linked to SLC37A4
Frequently asked questions
Which genes are linked to Glucose-6-phosphate transport defect?
In CATVariant, Glucose-6-phosphate transport defect is linked to 1 analyzed protein: SLC37A4 (Glucose-6-phosphate exchanger SLC37A4).
How many genetic variants are linked to Glucose-6-phosphate transport defect?
345 variants: 30 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 312 are of uncertain significance or have conflicting reports.
Which uncertain variants in Glucose-6-phosphate transport defect look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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