SLC37A4

SLC37A4 is a gene that provides instructions for making a protein that is found in the liver and in certain white blood cells. This protein is involved in the regulation of glucose, a simple sugar that is a primary source of energy for the body. The SLC37A4 protein helps control the amount of glucose released into the bloodstream, particularly between meals, to ensure that glucose levels remain steady.

Function[edit | edit source]

The SLC37A4 gene provides instructions for making a protein that is involved in the regulation of glucose, a simple sugar that is a primary source of energy for the body. This protein is found in the liver and in certain white blood cells. The SLC37A4 protein helps control the amount of glucose released into the bloodstream, particularly between meals, to ensure that glucose levels remain steady.

Clinical significance[edit | edit source]

Mutations in the SLC37A4 gene cause glycogen storage disease type Ib (GSDIb). This condition is characterized by the accumulation of a complex sugar called glycogen in the liver and other tissues. People with GSDIb typically have low blood sugar (hypoglycemia), an enlarged liver (hepatomegaly), and slow growth. They also have a shortage of white blood cells (neutropenia), which leads to a higher risk of infections.

Genetics[edit | edit source]

The SLC37A4 gene is located on the short (p) arm of chromosome 11 at position 23.3. More precisely, the SLC37A4 gene is located from base pair 11,615,484 to base pair 11,631,839 on chromosome 11.

References[edit | edit source]

External links[edit | edit source]

SLC37A4 at the Genetics Home Reference

SLC37A4 Resources
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