Meyahealth
HomeGeneticsGeneSLC37A4 gene
Back to Gene
SLC37A4 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

SLC37A4 gene

The SLC37A4 gene provides instructions for a protein that transports glucose 6-phosphate, a critical step in the body's ability to produce glucose for energy.

Normal Function

The SLC37A4 gene provides instructions for making a protein called glucose 6-phosphate translocase. This protein transports the sugar molecule glucose 6-phosphate from the cytoplasm into the endoplasmic reticulum. Within the endoplasmic reticulum, it works with the glucose 6-phosphatase protein to break down glucose 6-phosphate into glucose, which serves as the primary energy source for most cells in the body.

Health Conditions Related to Genetic Changes

Glycogen storage disease type I

More than 80 mutations in the SLC37A4 gene have been found to cause glycogen storage disease type Ib (GSDIb). These mutations disrupt the function of glucose 6-phosphate translocase, preventing the transport of glucose 6-phosphate into the endoplasmic reticulum. Consequently, glucose cannot be produced.

Instead of being broken down into glucose, the accumulated glucose 6-phosphate is converted into fat and glycogen. The storage of excessive fat and glycogen within cells is toxic, leading to damage in organs and tissues, particularly the liver and kidneys. Additionally, for reasons that remain unclear, mutations in the SLC37A4 gene cause a shortage of white blood cells, known as neutropenia, in individuals with GSDIb.

Frequently Asked Questions

Neutropenia in GSDIb significantly increases the risk of bacterial infections, particularly in the mouth, gut, and skin. Management often involves close monitoring of white blood cell counts and prompt treatment of infections. In some cases, a medication called granulocyte colony-stimulating factor (G-CSF) may be prescribed to stimulate white blood cell production and reduce infection frequency.
Early signs of GSDIb often include low blood sugar (hypoglycemia) between meals, an enlarged liver (hepatomegaly), poor growth, and a tendency for frequent infections due to a shortage of white blood cells (neutropenia). Children may also have a distended abdomen due to the enlarged liver.
Daily management of GSDIb focuses on maintaining stable blood sugar levels. This usually involves frequent feedings, often including uncooked cornstarch therapy given throughout the day and night. Cornstarch provides a slow, sustained release of glucose. Avoiding prolonged fasting is crucial, and a specialized diet plan developed with a metabolic dietitian is essential.
GSDIb is inherited in an autosomal recessive pattern. This means a child must inherit two copies of a mutated SLC37A4 gene (one from each parent) to develop the condition. If both parents are carriers (meaning they each have one mutated copy but do not have the disease themselves), there is a 25% chance with each pregnancy that their child will inherit GSDIb. Genetic counseling can provide a more personalized risk assessment.
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.

Meyahealth

Ⓒ 2026. All rights reserved by MEYA

About UsTerms & PolicyFAQ