Phosphate transport defect: genes and variants
Phosphate transport defect is linked to 1 analyzed protein (SLC37A4). 7 DNA variants are known to cause it; 43 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 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.
7 disease-causing and 43 uncertain variants in SLC37A4 are linked to Phosphate transport defect.
Where Phosphate transport defect variants cluster
- SLC37A4 Transmembrane (positions 12–33): 3 of 7 disease-causing changes, 8.4× more than its size predicts.
Known disease-causing variants in Phosphate transport defect
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SLC37A4 R28C | 28 | Transmembrane | Disease-causing (★★) |
| SLC37A4 R28H | 28 | Transmembrane | Disease-causing (★★) |
| SLC37A4 R300H | 300 | Cytoplasmic | Disease-causing (★★) |
| SLC37A4 H301P | 301 | Cytoplasmic | Disease-causing (★★) |
| SLC37A4 G339D | 339 | Transmembrane | Disease-causing (★★) |
| SLC37A4 G20D | 20 | Transmembrane | Disease-causing (★★) |
| SLC37A4 G150R | 150 | Transmembrane | Disease-causing (★★) |
Same protein, different disease
- Glucose-6-phosphate transport defect is also caused by SLC37A4 variants; they fall mostly in different places as the Phosphate transport defect variants (30 disease-causing).
Diseases related to Phosphate transport defect
- Glycogen storage disease, also linked to SLC37A4
- Glycogen storage disease due to glucose-6-phosphatase deficiency, also linked to SLC37A4
- Glucose-6-phosphate transport defect, also linked to SLC37A4
- Congenital disorder of glycosylation, type IIw, also linked to SLC37A4
Frequently asked questions
Which genes are linked to Phosphate transport defect?
In CATVariant, Phosphate transport defect is linked to 1 analyzed protein: SLC37A4 (Glucose-6-phosphate exchanger SLC37A4).
How many genetic variants are linked to Phosphate transport defect?
50 variants: 7 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 43 are of uncertain significance or have conflicting reports.
Which uncertain variants in 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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