G6PC1
Chr 17ARglucose-6-phosphatase catalytic subunit 1
Also known as: G6PC, G6PT, G6Pase, GSD1, GSD1a
Glucose-6-phosphatase hydrolyzes glucose-6-phosphate to glucose in the endoplasmic reticulum and is the key enzyme in homeostatic regulation of blood glucose levels through the terminal step of glycogenolysis and gluconeogenesis. Mutations cause glycogen storage disease type Ia (von Gierke disease), an autosomal recessive metabolic disorder characterized by severe hypoglycemia and accumulation of glycogen and fat in the liver and kidneys. The gene shows low constraint to loss-of-function variation, consistent with the recessive inheritance pattern.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
500 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 39 | 9 | 8 | 0 | 56 |
Likely Pathogenic | 29 | 34 | 1 | 0 | 64 |
VUS | 2 | 97 | 34 | 3 | 136 |
Likely Benign | 1 | 17 | 59 | 129 | 206 |
Benign | 0 | 1 | 17 | 0 | 18 |
Conflicting | — | 17 | |||
| Total | 71 | 158 | 119 | 132 | 497 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
G6PC1 · 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
External Resources
Links to major genomics databases and tools