GDPGP1
Chr 15GDP-D-glucose phosphorylase 1
Also known as: C15orf58, VTC2
The protein functions as a GDP-D-glucose phosphorylase that regulates cellular GDP-D-glucose levels and plays a key role in neuronal stress resistance by modulating neuronal glycogen levels and maintaining glucose balance. Mutations cause autosomal recessive developmental and epileptic encephalopathy with microcephaly, typically presenting in early infancy with seizures and severe developmental delay. The gene shows tolerance to loss-of-function variants (LOEUF 1.84), suggesting the pathogenic variants may have more complex effects on protein function.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
GDPGP1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools