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G6PC1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

G6PC1 gene

The G6PC1 gene provides instructions for making the enzyme glucose 6-phosphatase, which is vital for regulating glucose production in the liver, kidneys, and intestines.

Normal Function

The G6PC1 gene provides instructions for making an enzyme called glucose 6-phosphatase. This enzyme is found on the membrane of the endoplasmic reticulum, a structure inside cells involved in protein processing and transport.

Glucose 6-phosphatase works together with the glucose 6-phosphate translocase protein (produced from the SLC37A4 gene) to break down a type of sugar molecule called glucose 6-phosphate. The breakdown of this molecule produces the simple sugar glucose, which is the primary source of energy for most cells in the body. The glucose 6-phosphatase enzyme is active in the liver, kidneys, and intestines, and is the main regulator of glucose production in the liver.

Health Conditions Related to Genetic Changes

Glycogen storage disease type I

Variants (also called mutations) in the G6PC1 gene have been found to cause glycogen storage disease type Ia (GSDIa). Most of these variants change single protein building blocks (amino acids) in the glucose 6-phosphatase enzyme.

Variants in the G6PC1 gene impair the function of the glucose 6-phosphatase enzyme. When this enzyme is not functioning normally, glucose 6-phosphate is not broken down and glucose is not produced. Glucose 6-phosphate that is not broken down to glucose is converted to fat and glycogen, a complex sugar stored within cells. Too much fat and glycogen stored within a cell can be toxic. This buildup damages organs and tissues throughout the body, particularly the liver and kidneys, leading to the signs and symptoms of GSDIa.

Other Names for This Gene

  • G-6-Pase
  • G6Pase
  • G6Pase-alpha
  • G6PC
  • G6PC_HUMAN
  • glucose-6-phosphatase
  • glucose-6-phosphatase alpha
  • glucose-6-phosphatase, catalytic subunit

Frequently Asked Questions

First, fasting blood tests reveal low glucose with high lactate, triglycerides, and uric acid. Enzyme activity of glucose‑6‑phosphatase can be measured in liver biopsy or cultured fibroblasts, but most centers now confirm the diagnosis with molecular genetic testing that identifies pathogenic variants in the G6PC1 gene.
Typical features include persistent hypoglycemia (especially between meals or overnight), enlarged liver (hepatomegaly), growth retardation, elevated blood lactate, triglycerides, and uric acid, as well as a “doll‑like” facial appearance. Frequent episodes of vomiting or seizures due to low blood sugar are also common.
Research is ongoing into gene therapy using adeno‑associated viral vectors to deliver a functional G6PC1 gene, with early trials showing promising reductions in hypoglycemia episodes. Liver transplantation can cure the metabolic defect but is reserved for severe cases with liver failure. Pharmacologic agents such as miglustat are being explored to reduce glycogen accumulation, though they are not yet standard care.
The cornerstone is a high‑carbohydrate, low‑fat diet with frequent meals and continuous overnight feeding. Uncooked cornstarch (UCCS) provides a slow‑release glucose source and is typically given every 4–6 hours, including a bedtime dose. Some patients may require a nocturnal nasogastric or gastrostomy tube for continuous glucose polymer infusion.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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