SLC37A4 (O43826) variants and mutations

SLC37A4 (also known as O43826) is a human protein-coding gene encoding a glucose-6-phosphate exchanger protein. 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. This analysis covers 805 SLC37A4 variants and mutations. Of these, 78% have computational variant effect predictions. Disease context includes Glycogen storage disease due to glucose-6-phosphatase deficiency type b, Glycogen storage disease due to glucose-6-phosphatase deficiency, and glycogen storage disease Ib. Example SLC37A4 variants include M1V, A2T, and A3P.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable SLC37A4 variants

Examples include M1V, A2T, A3P, Q4H, G5D, G5R, G5S, Y6C. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.